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Cystic fibrosis rare mutations list

Encala is the first medical food formulated to help people with CF absorb fats & vitamins. If you or someone you love has cystic fibrosis (CF), Encala can help with nutrition Cystic fibrosis is caused by mutations, or errors, in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which result in either no CFTR protein being made or a malformed CFTR protein that can't perform its key function in the cell. Its function is to create channels on the cell surface to allow the movement of chloride (a component of salt) in and out of the cell

Encala Enhanced Nutrition - For Those with Cystic Fibrosi

Types of CFTR Mutations - Cystic Fibrosis Foundation CF

the CFTR gene, and there must be mutations in both copies to cause CF. More than 1,700 mutations of the CFTR gene have been identified. Although some are common, others are rare and found in only a few people. CFTR mutations are grouped into classes based on the way the mutations affect the CFTR protein. The reverse side of thi Targeted Approaches to Treat Different CF Mutations There are more than 1,800 mutations of the cystic fibrosis gene; some are common and others are rare and found only in a few people. Certain types of CF mutations are associated with different symptoms of the disease For a complete list of CFTR2 variants and their characterizations, please visit CFTR2 Variant List History. What this site is intended to do: This website provides information for members of the general public, including cystic fibrosis patients and their family members, about what is currently known about specific genetic variants related to. Subcommittee on Cystic Fibrosis [4] is that screening for cystic fibrosis should be offered to all patients, regardless of ethnicity. This panel tests for the 39 most common CFTR mutations (listed below), including the core panel of 23 mutations for cystic fibrosis as recommended by the American College of Medical Genetics in 2004 [4]

Rare mutation cell collection (RARE) (RARE-OB-16) CFF

Cystic fibrosis Genetic and Rare Diseases Information

Over 1800 Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) mutations have been identified so far, determining different degrees of CFTR dysfunction and a range of different cystic fibrosis phenotypes With Cystic Fibrosis Foundation support, an international team of researchers created an online database that provides information about different mutations and symptoms associated with each mutation. This online resource is designed for people with CF and their families, researchers, health professionals, and the general public Introduction: More than 2000 mutations have been identified since the discovery of the CFTR gene in 1989. However, only 346 mutations have been classified as cystic fibrosis (CF)-causing mutations. Due to the increasing number of mutations and poor correlation between the genotype and phenotype, there is an urgent need to determine the mutations that are pathogenic, nonpathogenic, or lead to. CFTR2 provides clinical and functional information of the most common CFTR-mutations. Rare mutations (RMs) occur in only a few patients with limited reported clinical data. Their role in CF-disease liability is hardly documented. Belgian CF-Registry 2013 data were analyzed to identify CF with at least 1 RM (CF+RM). Clinical data and sweat chloride of CF+RM were compared to CF-controls.

S17--CFTR: Challenging CFTR Mutations: Meeting Unmet Needs

Rare Mutations Drive Cystic Fibrosis in Caribbean. Cystic Fibrosis (CF) in Puerto Rico and the Dominican Republic is dominated by unusual gene mutations not often observed in previously studied CF populations, according to comprehensive genome sequencing led by physician-scientists at UC San Francisco and Centro de Neumología Pediátrica in. The rare Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutations, c.1826A > G (H609R) and c.3067_3072delATAGTG (I1023_V1024del), are associated with severe lung disease. Despite the existence of four CFTR targeted therapies, none have been approved for individuals with these mutations because the associated molecular defects were. 1. Medicine (Baltimore). 2018 Jul;97(28):e11397. doi: 10.1097/MD.0000000000011397. V232D mutation in patients with cystic fibrosis: Not so rare, not so mild

The sNDAs are based on in-vitro data from a validated cell assay model. Data from the model showed that some rare mutations in the CFTR gene are responsive to one of more of the three medicines Personalised medicine for non-classic cystic fibrosis resulting from rare CFTR mutations. McCravy MS (1), Quinney NL (2), Cholon DM (2), Boyles SE (2), Jensen TJ (2), Aleksandrov AA (2) (3), Donaldson SH (1) (4), Noone PG (1) (4), Gentzsch M (2) (5) Cystic fibrosis (CF) is a rare genetic disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene

Rare mutations drive cystic fibrosis in Caribbean by University of California, San Francisco Clubbing of the fingers is a classic features of Cystic Fibrosis, although not present in many patients Select an age and CF mutation to see if one of our medicines may be an option

List of Genetic Disorders

Cystic Fibrosis genetics: Know Your CF Mutation

• Bobadilla J, Macek M Jr, et al. Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat. 2002;19:575-606 • Heim RA, Sugarman EA, et al. Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation test Over 1800 cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations have been identified so far and the delta F 508 del mutation is the most common mutation. Gene sequencing and deletion/duplication analysis can detect mutations in 99% of people with a clinical diagnosis of CF Clinical information in this database relates only to the details of discovery of specific mutations. As part of the 2010 upgrade, CFTR1 joins a new project called CFTR2 - The Clinical and Functional TRanslation of CFTR. This is an international initiative led by a team of researchers and clinicians and supported by the US Cystic Fibrosis Foundation that seeks to provide complete, advanced and. Cystic fibrosis (CF) 1 is the most frequent lethal inherited disease among Caucasians, having a prevalence of ∼1 in 2500 newborns. Since the cloning of the cystic fibrosis transmembrane regulator (CFTR) gene in 1989 ()()(), >800 mutations have been detected.A few mutations (i.e., ΔF508, N1303K, G542X, and R553X) are frequent worldwide; the other mutations are regional or private. Over 1800 Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) mutations have been identified so far, determining different degrees of CFTR dysfunction and a range of different cystic fibrosis phenotypes. The P5L CFTR mutation is a recently described N-terminus missense variant which may cause defect of protein folding and processing/trafficking, but the functional classification is.

Welcome to CFTR2 CFTR

Cystic Fibrosis Complete Rare Variant Analysis, Entire Gene Sequence - Cystic fibrosis (CF) is the most common recessive lethal genetic disorder affecting primarily Caucasians of Northern European descent, with an incidence of approximately 1 in 3300 births and a carrier rate of 1 in 29. This test analyzes approximately 1000 variants that account for greater than 98% of disease causing variants Effects on Cystic Fibrosis Patients with Rare CFTR Genetic Mutations Merlin Thomas 1,2, *, Soha Aboukhalaf 3 , Toqa Darwish 3 , Menatalla Ali 3 , Omar Elsaied 3 , Mutaz Al Bakri 1 Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. CF is caused by mutations in the CFTR gene and inheritance is autosomal recessive.[24][13438][25] Treatment aims to relieve symptoms and usually includes respiratory therapies, inhaled medicines. Introduction More than 2000 mutations have been identified since the discovery of the CFTR gene in 1989. However, only 346 mutations have been classified as cystic fibrosis (CF)-causing mutations. D..

Dependent upon the combination of the results of initial CF screen, family history, and presence of known CF mutations, the Cystic Fibrosis Complete Rare Variant Analysis, Entire Gene Sequence may be performed at an additional charge (CPT code(s): 81223). This test is performed upon verification by a Genetic Counselor lected residual function (RF) mutations, namely from classes IV, V and VI and mainly affecting conductance, expression levels and cell surface stability, respectively. These drugs also have FDA approval for the same mutations plus a longer list of rare CFTR mutations based on clinical or in-vitro data from a Fisher Rat Thyroid (FRT 1 INTRODUCTION. Cystic fibrosis (CF) is the most common autosomal recessive disease in the Caucasian population, occurring in approximately 1/3500 births. 1 Most patients become symptomatic at birth or soon after birth and respiratory infections and poor weight gain are the most frequent presentation. 2, 3 This combination of recurrent respiratory infections and pancreatic insufficiency should. Cystic fibrosis (CF) was identified in 1938 by Dr. Dorothy Andersen who described 49 patients with pancreatic insufficiency. Since that time significant achievements in the knowledge about the disease and treatments for patients have changed the mortality from a few months to patients living into middle adulthood or even later Cystic fibrosis is a rare genetic, orphan disease. The many genetic causes of the condition largely converge by the impact on the expression, or function of, the CFTR protein. Mutations have been categorised into different classes on the basis of how they effect the function of CFTR and the consequences can be mild to severe disease phenotypes

The report, Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype, was published in the journal Molecular Genetics & Genomic Medicine. CF is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, which encodes a protein responsible for controlling the flow of chloride ions in and out of cells Rare Mutations Drive Cystic Fibrosis in Caribbean October 31, 2019 ScienceBlog.com Cystic Fibrosis (CF) in Puerto Rico and the Dominican Republic is dominated by unusual gene mutations not often observed in previously studied CF populations, according to comprehensive genome sequencing led by physician-scientists at UC San Francisco and. Altogether 7 cystic fibrosis causing mutations were identified in 10 patients. Except delta F508 which is the commonest mutation worldwide all the other mutations detected in Sri Lankan patients are rare mutations. 1161delC and V456A detected in our patients are South Asian mutations Cystic Fibrosis (CF) in the Caribbean is dominated by unusual gene mutations not often observed in previously studied CF populations, according to comprehensive genome sequencing led by physician. Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. Chloride also has important functions in cells; for example, the flow of chloride ions helps control the movement of water in.

Cystic Fibrosis: CFTR Common Mutation Pane

  1. 1. Eur Respir J. 2020 Apr 7. pii: 2000062. doi: 10.1183/13993003.00062-2020. [Epub ahead of print] Personalised medicine for non-classic cystic fibrosis resulting from rare CFTR mutations
  2. A transformative era for cystic fibrosis therapy. The emergence of modulator treatment (primarily potentiators and correctors) has dramatically changed the prognostic landscape for patients with CF 1. CFTR, the responsible gene, encodes an epithelial anion channel, and 'potentiators' of channel function such as ivacaftor have led to dramatic clinical improvement for individuals.
  3. A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or.
  4. The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance disease-causing gene is common, it is the occurrence of an abnormality in the parents that causes the disabilities to be created within the child. There are over 6,000 known genetic disorders in human
  5. When California native Stacy Carmona was 10 years old, her 12-year-old best friend died from cystic fibrosis (CF). CF is a rare, life-threatening genetic disease that affects the lungs and pancreas
  6. ate in Caribbean Patients. NEW YORK - Cystic fibrosis patients from Puerto Rico and the Do
  7. There are over 2000 genetic mutations that cause cystic fibrosis, but DNA testing can only identify about 70 of the most common ones. To resolve questionable cases, one of two tests can measure the activity of the patient's CFTR proteins by measuring voltage differences in the body's tissues: the nasal potential difference (NPD) test and.

fibrosis in a patient homozygous for a rare CFTR mutation: a case report Joanna Jaworska1*, Aleksandra Marach-Mocarska2 and Dorota Sands1 Abstract Background: Cystic fibrosis (CF) is the most common, life-threatening, autosomal-recessive disorder among Caucasians. To date, approximately 2000 mutations in the CFTR gene have been reported. Some. Cystic fibrosis (CF) is an autosomal recessive genetic disorder that causes a lifetime of debilitating and life-threatening complications affecting the lungs and other organ systems. Over 1,700 gene mutations that cause this rare disorder have been identified. This article describes the current treatment landscape for adults with CF, including. Cystic fibrosis is one of the most common inherited diseases and is caused by a mutation in a membrane protein, the cystic fibrosis transmembrane conductance regulator (CFTR). This protein serves as a chloride channel and regulates the viscosity of mucus lining the ducts of a number of organs. Although much has been learned about the consequences of mutations on the energy landscape and the. The progression of cystic fibrosis (CF) in patients with the rare mutation P67L was examined to determine if it induced a milder form of CF compared to the common severe ΔF508 mutation. Methods Parameters of lung function, level of bacterial infection, nutritional status and hospitalization were used to represent CF progression

Cystic Fibrosis - NORD (National Organization for Rare

Cystic Fibrosis Complete Rare Variant Analysis, Entire Gene Sequence. Cystic fibrosis (CF) is the most common recessive lethal genetic disorder affecting primarily Caucasians of Northern European descent, with an incidence of approximately 1 in 3300 births and a carrier rate of 1 in 29. This test is appropriate to determine if the fetus has. Cystic fibrosis is a rare disease that affects about 30,000 people in the United States.Kalydeco is indicated for patients aged 2 and older who have one mutation in the CFTR gene that is. Improved detection of cystic fibrosis mutations in at-risk patients with DNA sequence analysis. Download. Related Papers. Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens. By A. Calogero and M. Cannizzaro

My Cystic Fibrosis Diagnosis Story With A Rare Mutatio

  1. Cystic fibrosis is the most common autosomal recessive disorder in Caucasians. Little has been reported on its occurrence in Arab and Lebanese populations where mutation distribution seems to differ from that of Europeans. We report on the occurrence of a frameshift mutation 4016insG in two Lebanese Muslim siblings, products of consanguineous parents
  2. Introduction. Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene, located on the long arm of chromosome 7. The first clinical description of the syndrome occurred in 1939 and the causative gene was successfully cloned in 1989. 1 Since then, significant progress has been made to better understand the underlying.
  3. Newswise — Some 2,103 mutations have been identified in patients with cystic fibrosis (CF), the most common fatal genetic disease in Canada, and together they pose huge challenges for patients.
  4. Vertex's (VRTX) sNDAs seek approval of Trikafta, Symdeko, and Kalydeco for additional rare mutations in the CFTR genes
  5. Cystic Fibrosis Rare Variant Analysis, One Exon - Cystic fibrosis (CF) is the most common recessive lethal genetic disorder affecting primarily Caucasians of Northern European descent, with an incidence of approximately 1 in 3300 births and a carrier rate of 1 in 29. Detection of variant in one exon is useful in patients with a known familial variant that is not included in the general cystic.
  6. While rare worldwide, pIle1234Val (I1234V) mutation has been reported to be the most common mutation in the Bedouin tribes in the Middle East, and the most common in Qatar [2,3]. In Qatar, the most updated number of CF patients is estimated to be 82 patients, of which 34 are adults and the rest are children under 18 years old [ 4 ]
  7. About Cystic Fibrosis. Cystic fibrosis (CF) is the most common, fatal genetic disease in the United States. About 30,000 people in the United States have the disease. CF causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas, which stops digestive enzymes from reaching the intestine.

If the trial is successful, it could potentially validate other similar therapeutic approaches in SpliSense's pipeline that address rare mutations in cystic fibrosis which do not respond to. About Cystic Fibrosis. Cystic Fibrosis (CF) is a rare, life-shortening genetic disease affecting approximately 75,000 people worldwide. in patients aged 12 years and older who have at least. According to cystic fibrosis foundation, more than 30,000 patients are living with cystic fibrosis in the United States. Nearly, 1000 new cystic fibrosis cases are diagnosed each year. According to CFF's national patient registry, the median age of the person with cystic fibrosis is currently 33.4 years Cystic fibrosis (CF) is a rare, life-shortening genetic disease affecting more than 80,000 people globally. CF is a progressive, multi-system disease that affects the lungs, liver, GI tract, sinuses, sweat glands, pancreas and reproductive tract. CF is caused by a defective and/or missing CFTR protein resulting from certain mutations in the.

Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits. Bernardino AL, Ferri A, Passos-Bueno MR, Kim CE, Nakaie CM, Gomes CE, Damaceno N, Zatz M Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations Testing for 97 cystic fibrosis mutations, including all of the mutations currently recommended by the ACMG and ACOG Special Instructions Prenatal testing: LabCorp clients should call 800-345-4363, and Integrated Genetics clients should call 800-848-4436 to speak to a laboratory genetic coordinator before collecting any specimens As of May 2016, over 1800 CF causing mutations have been found within the CFTR gene. Some of these mutations are more common, and some are extremely rare. We have two copies of the CFTR gene- one from both parents. Both copies need to have a genetic change (mutation) for someone to have cystic fibrosis Cystic Fibrosis. Cystic fibrosis is an autosomal recessive condition caused by mutations in the CFTR gene. It is relatively rare, occurring in approximately 1 in 2,500 to 3,000 livebirths, but is the most common, lethal genetic disease in Caucasian populations. CF is a progressive disease that affects many organ systems, but most of its. Cystic Fibrosis Gene Mutation Dear Editor, Cystic Fibrosis is an autosomal recessive disorder, which is caused by mutations in CFTR gene on chromosome 7q31.2. The prevalence of CF is approximately 1 in 2500 in Caucasians. In other populations, it has been seen less frequently

CBAVD is a significant cause of male infertility. CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Individuals with mutations in the CFTR gene may also present with milder or atypical symptoms such as pancreatitis or chronic sinusitis. The incidence of CF is approximately 1 in 2,500 live births. Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene, with various clinical manifestations that affect pulmonary, digestive, exocrine and male reproductive functions as well as the bones and kidneys. This study aimed to reveal the spectrum of CFTR gene mutations in Arab CF patients and their corresponding clinical phenotypes among the 22 Arab. Cystic fibrosis (CF) is a genetic disorder that causes problems with breathing and digestion. CF affects about 35,000 people in the United States. People with CF have mucus that is too thick and sticky, which. prevents proteins needed for digestion from reaching the intestines, which decreases the body's ability to absorb nutrients from food. According to a story from scienceblog.com, a recent study has revealed that large portion of cystic fibrosis cases recorded in the Dominican Republic and Puerto Rico are linked to genetic mutations that are generally considered rare for the disorder.Typically, cystic fibrosis is linked to mutations of the CFTR gene (95 percent of cases), but the Dominican patients often had no mutations in. Although cystic fibrosis is one of the most common life-threatening genetic disorders, affecting an estimated 90,000 people worldwide, some CFTR mutations are more common than others

Cystic fibrosis is an inherited disease caused by mutations in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) gene.The CFTR gene provides instructions for the CFTR protein. The CFTR protein is located in every organ of the body that makes mucus, including the lungs, liver, pancreas, and intestines, as well as sweat glands.. The CFTR protein has also been found in. Cystic fibrosis (CF) is the most common, life-threatening, autosomal-recessive disorder among Caucasians. To date, approximately 2000 mutations in the CFTR gene have been reported. Some of these mutations are very rare, and some represent individual sequence changes in the gene. The introduction of newborn screening (NBS) in high prevalence countries for CF has considerably changed the. Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine More than 95% of males with cystic fibrosis have primary infertility with obstructive azoospermia secondary to congenital bilateral absence of the vas deferens. Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene, located on chromosome 7. Two copies of deleterious mutations in this gene cause cystic. The wikipedia article on cystic fibrosis is a good resource to learn about the disease. Cystic fibrosis transmembrane conductance regulator is a gene which influences the condition.The following OMIM article compiles the latest medical research, and the CFTR2 website maintained by Johns Hopkins University maintains information about all the mutations that have been reported

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Rare CFTR Mutation Cell Collection Protocol (RARE) - Full

  1. This is the case of cystic fibrosis transmembrane conductance regulator (CFTR), the gene responsible for cystic fibrosis (CF). Yet, to confirm a CF diagnosis, proof of CFTR dysfunction needs to be obtained, namely by the identification of two disease-causing mutations
  2. Search for: Rare Disease Profiles; 5 Facts; Rare IQ; Rare Mystery;
  3. CFP : Cystic fibrosis (CF), in the classic form, is a severe autosomal recessive disorder characterized by a varied degree of chronic obstructive lung disease and pancreatic enzyme insufficiency. The incidence of CF varies markedly among different populations, as does the mutation detection rate for the mutation screening assay. To date, over 1,500 mutations have been described within the CF.

Vertex's (VRTX) sNDAs seek approval of Trikafta, Symdeko, and Kalydeco for additional rare mutations in the CFTR genes FDA approves breakthrough therapy Trikafta for patients 12 and older with cystic fibrosis who have at least one F508del mutation in the CFTR gene, estimated to represent 90% of the cystic fibrosis. The list of rare mutations now eligible for these modulators can be found here. Equivalent terms for rare mutation access for people with CF in Wales, Northern Ireland and Scotland were ensured by NHS England Vertex Pharmaceuticals Incorporated VRTX announced that the FDA has accepted its three supplemental new drug applications (sNDA) seeking approval of its cystic fibrosis (CF) drugs, Trikafta, Symdeko and Kalydeco for additional rare CFTR mutations.If approved for this expanded use, these drugs will be eligible to treat additional 600 CF patients..

In fact, there are now known to be more than 2,000 mutations that cause cystic fibrosis. If someone has a very rare mutation it may be harder to diagnose. Cystic fibrosis can vary widely in its severity and symptoms, and can mimic other lung diseases such as asthma or bronchitis, making diagnosis challenging Cystic fibrosis (CF) is one of the most common inherited genetic disorders in the Caucasian population with an estimated incidence of 1 in 2500 live birth. While more than 1800 CF transmembrane conductance regulator ( CFTR) mutations have been identified, delta F508del mutation is the most common mutation (86.5%) Introduction. Cystic fibrosis (CF) is a chronic and progressive disorder affecting more than 70,000 people worldwide, characterised by dysfunctional secretory epithelial cells which cause obstructions in the lung airways and pancreatic ducts [].The disease is caused by mutations in both alleles of the CFTR gene, which encodes an apical membrane Cl-/HCO 3-channel [2-4] Kaftrio is an effective treatment for patients with cystic fibrosis who have two F508del mutations or one F508del and one MF mutation. Both are groups with a high unmet medical need. Patients with one F508del mutation plus other mutations were not covered in the studies, and although the company submitted some data on use in such patients, further data was considered necessary to support. Introduction. Cystic fibrosis (CF) is a life-shortening disease, caused by a wide variety of mutations in the CF transmembrane conductance regulator (CFTR) gene (Sosnay et al., 2013).Recently developed pharmacotherapies (CFTR modulators) restore CFTR protein function with impressive efficacy, acting on the most common mutant CFTR protein (CFTR-F508del) and potentially on other mutant.

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Cystic fibrosis (CF) is a progressive genetic disorder, inherited by the autosomal recessive mode of inheritance and more frequently seen in the Caucasian population with a carrier rate of 1:29 in Caucasian-Americans. Over 1800 cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations have been identified so far and the delta F 508 del mutation is the most common mutation Caused by mutation in gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). Causes abnormal transport of chloride, bicarbonate and sodium ions across epithelium, leading to thick, viscous secretions that affect the lungs, pancreas, liver and intestines, which cause difficulty breathing, lung infections and digestive complication GENOMICS 10, 266-269 (1991) SHORT COMMUNICATION Detection of Three Rare Frameshift Mutations in the Cystic Fibrosis Gene in an African-American (CF444de1A), an Italian (CF2522insC), and a Soviet (CF3821 deIT)' MARGA BELLE WHITE,* LESLIE J. KRUEGER,t DOUGLAS S. HOLSCLAW, JR.,t BERNARD C. GERRARD,$ CLAUDIA STEWART,$ LYNNE QUITTELL, GREGORY DOLGANOV,11 VLADISLOV BARANOV, II TATYANA IVASCHENKO, II.