ABCMdb

PMID: 9222768

Gouya L, Pascaud O, Munck A, Elion J, Denamur E
Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient.
Hum Mutat. 1997;10(1):86-7., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCC7 p.Ala141Asp 86 GOUYA ET AL. (c) 1997 WILEY-LISS, INC. HUMU 643 MUTATION IN BRIEF Novel Mutation (A141D) in Exon 4 of the CFTR Gene Identified In An Algerian Patient Laurent Gouya,1 Olivier Pascaud,1 Anne Munck,2 Jacques Elion,1 and Erick Denamur1* 1 Laboratoire de Biochimie Génétique, Hôpital Robert Debré, 75935 Parix cedex 19, France; Fax: 33-1-40-3-2020 2 Service de Gastro-Entérologie, Höpital Robert Debré, 75935 Paris Cedex 19, France Communicated by Farid F. Chehab Received 30 August 1995; Accepted 28 December 1995. Login to comment 3 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* More than 500 mutations have now been identified, but only five mutations have a frequency > 1% worldwide (i.e., ∆F508, G542X, G551D, W1282X, and N1303K) (CFGAC, 1994). Login to comment 7 ABCC7 p.Asn1303Lys By this procedure, heterozygosity was found for the N1303K mutation. Login to comment 12 ABCC7 p.Ala141Asp Sequence analysis of the abnormal PCR-product revealed a C→A transversion at nucleotide 554 generating a drastic (neutral to charged) Ala→Asp amino acid change at position 141 in the CFTR protein (A141D). Login to comment 13 ABCC7 p.Asn1303Lys ABCC7 p.Ala141Asp Familial segregation analysis excluded the possibility that the N1303K and the A141D mutations, in this patient, were both present on the same allele. Login to comment 14 ABCC7 p.Ala141Asp The A141D mutation occurs in the intracytoplasmic loop at the C-terminal end of the first membrane-spanning domain, right after the second putative transmembrane helix M2. Login to comment 16 ABCC7 p.Asn1303Lys The association of a pancreatic-sufficient mutation with a pancreatic-insufficient mutation, as here N1303K, in compound heterozygotes has been shown to give rise to a pancreatic-sufficient phenotype probably because of the recessive mode of transmission of CF (Welsh and Smith, 1993). Login to comment 21 ABCC7 p.Asn1303Lys To date, CF mutations in patients from Northern Africa have been poorly studied. Still, it seems that in these populations: () the frequency of the ∆F508 mutation does not exceed HUMAN MUTATION 10:86-87 (1997) NOVEL MUTATION IN CFTR GENE 87 20%, (2) the N1303K mutation is quite common and accounts for ~10% of the alleles, and (3) 30% of the alleles remain unidentified even when exhaustive studies are performed including complete exon scanning (Messaoud et al., 1995). Login to comment