ABCMdb

PMID: 15025720

Feuillet-Fieux MN, Ferrec M, Gigarel N, Thuillier L, Sermet I, Steffann J, Lenoir G, Bonnefont JP
Novel CFTR mutations in black cystic fibrosis patients.
Clin Genet. 2004 Apr;65(4):284-7., [PubMed]

Sentences

No. Mutations Sentence Comment

42 ABCC7 p.Tyr109* This mutation predicts the substitution of a stop codon for a tyrosine (Y109X), resulting in truncation of the CFTR protein by 1370 amino acids from the first transmembrane domain. Login to comment 62 ABCC7 p.Arg553* Some other mutations as the R553X mutation have arisen independently in the Caucasian and African populations on different chromosome backgrounds (15). Login to comment 64 ABCC7 p.Tyr109* We report herein four novel mutations in three Central African patients native of Cameroon [Y109X (exon 4)] and Senegal [IVS2 þ 28A > G (intron 2), EX17a-EX18del], and in one Guianese patient [IVS22 þ 1G > A (intron 22)]. Login to comment 65 ABCC7 p.Tyr109* While the parents of case 1 claimed they were unrelated, finding of an identical rare mutation (Y109X) in each of them indeed argues for some degree of consanguinity hitherto unknown. Login to comment 70 ABCC7 p.Arg553* ABCC7 p.Trp1316* ABCC7 p.Asp1270Asn ABCC7 p.Ser1255* ABCC7 p.Arg764* ABCC7 p.Gly480Cys ABCC7 p.Gly1249Glu ABCC7 p.Tyr563Asp ABCC7 p.Ser364Pro ABCC7 p.Gly330* ABCC7 p.Ala559Thr ABCC7 p.Ile618Thr ABCC7 p.Trp19Cys ABCC7 p.Arg1283Ser Cystic fibrosis (CF) mutations reported in black patients African-Americans South Africans Central Africans Guianese Mutation n/N Reference Mutation n/N Reference Mutation n/N Reference Mutation 3120þ1G>A 18/148 (7) 3120þ1G>A 11/24 (4) 3120þ1G>A 1/2 (1) 14/112 (1) 2/10 4/6 (2) (1) W19C (7) À94G>T 1/24 (4) 3600þ11.5kbC>G 4/4 (13) IVS22þ1G>A* 405þ3A>C 2/148 (7) 2183delAA 1/24 (4) Y109X* 444delA 1/148 (7, 19) 3196del54 1/24 (4) EX17a-EX18 del* 621G>A (7) G1249E 1/24 (4) IVS2þ28A>G* 1002-3T>G (7) 1/6 (1) 1119delA (7) D1270N 2/10 (2) G330X (7) F311del 1/24 (20) S364P (7) 1342-2delAG (7) 1504delG (7) G480C 2/148 (6, 7) R553X 3/148 (7) A559T 3/148 (7) Y563D (7) I618T (7) R764X (7) 2307insA 3/148 (7, 21) 2734delG/insAT (7) 3662delA (22) 3791delC (7) S1255X 2/148 (7, 23) R1283S (24) W1316X (23) n, number of CF chromosomes with a given mutation; N, total number of CF chromosomes tested. Login to comment