Severe splice site mutation preceding exon 9 of the CFTR gene

Cystic fibrosis (CF) is a common exocrinopathy of recessive inheritance caused by mutations in the "Cystic Fibrosis Transmembrane Conductance Regulator" (CFTR) gene. The CFTR gene product belongs to the family of ATP-binding transport proteins and can function as an epithelial cAMP-regulat...

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Bibliographic Details
Published in:Human molecular genetics 1993-08, Vol.2 (8), p.1313-1314
Main Authors: Dörk, Thilo, Fislage, Rainer, Rappen, Ulrich, Tümmler, Burkhard
Format: Article
Language:English
Subjects:
Adolescent
Base Sequence
Biological and medical sciences
Chloride Channels - genetics
cystic fibrosis
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator
Diseases in Twins - genetics
Exons
Female
Gastroenterology. Liver. Pancreas. Abdomen
genes
homozygosity
Homozygote
Humans
Infant
Introns
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
man
Medical sciences
Membrane Proteins - genetics
Molecular Sequence Data
mutation
Other diseases. Semiology
Point Mutation
Repetitive Sequences, Nucleic Acid
RNA Splicing
sites
splicing
Twins, Monozygotic - genetics
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Summary:Cystic fibrosis (CF) is a common exocrinopathy of recessive inheritance caused by mutations in the "Cystic Fibrosis Transmembrane Conductance Regulator" (CFTR) gene. The CFTR gene product belongs to the family of ATP-binding transport proteins and can function as an epithelial cAMP-regulated chloride channel. Alternative splicing results in an abundant isoform of CFTR mRNA lacking exon 9 (CFTR Delta 9) which can represent up to 90% of CFTR mRNA in healthy individuals. Here we report that homozygosity for a novel acceptor splice site mutation 1342-2 A arrow right C preceding exon 9 of the CFTR gene is associated with severe cystic fibrosis.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/2.8.1313