ABCMdb

PMID: 10077727

Loumi O, Baghriche M, Delpech M, Kaplan JC, Bienvenu T
Analysis of the complete coding region of the CFTR gene in ten Algerian cystic fibrosis families.
Hum Hered. 1999 Mar;49(2):81-4., [PubMed]

Sentences

No. Mutations Sentence Comment

17 ABCC7 p.Asn1303Lys ABCC7 p.Val754Met CF mutations and variants detected in Algerian patients (n = 20 CF chromosomes) Mutations Localization n % Cum fr. del CTT exon 10 4 20 20 N1303K C→G 4041 exon 21 4 20 40 711+1G→T G→T711+1 intron 5 2 10 50 1812-1G→A G→A 1812-1 intron 11 1 5 55 V754M G→A 2392 exon 13 1 5 60 Total 12 60 Table 1b. Variants detected in Algerian subjects (n = 40 chromosomes) Variants Localization n % A→G 1540 exon 10 8 20 P1290P A→G 4002 exon 20 1 2.5 T854T T→G 2694 exon 14a 11 27.5 Q1463Q G→A 4521 exon 24 7 17.5 875+40A→G intron 6a 2 5 5T intron 8 1 2.5 n = number of chromosomes; cum. Login to comment 27 ABCC7 p.Asn1303Lys ABCC7 p.Val754Met Among the 16 CF chromosomes carrying an unidentified mutated allele, 4 different mutations were identified, as reported in table 1a: N1303K (20%), 711 + 1G→T (10%), V754M (5%), 1812 - 1G→A (5%). Login to comment 31 ABCC7 p.Asn1303Lys The N1303K mutation has already been reported to be significantly more common in Southern European populations than in Northern European populations (Cystic Fibrosis Consortium). Login to comment 36 ABCC7 p.Val754Met This female CF patient of Berber origin was a compound heterozygote V754M/1812 - 1G→A. She was admitted at the age of 3 years to the Department of Paediatrics (Ain Taya Hospital, East of Algeria) for bronchiolitis, an elevated sweat chloride test (300 mEq/l) and her sputum colonized by Pseudomonas aeruginosa. Login to comment 37 ABCC7 p.Gly542* ABCC7 p.Val754Met The V754M (G to A at position 2392) mutation has previously been reported to the Cystic Fibrosis Genetic Analysis Consortium by Roger Mountford and seems to confer moderate disease when it is associated either with 1812 - 1G→A or G542X. Login to comment 38 ABCC7 p.Asp1270Asn ABCC7 p.Arg74Trp Moreover, we have identified a complex mutation R74W-D1270N in the mother of an Algerian 'F508 heterozygous CF patient, and none of these variation were inherited by the child. Login to comment 39 ABCC7 p.Asp1270Asn ABCC7 p.Arg74Trp Using intragenic polymorphisms, we have confirmed that R74W and D1270N were not inherited by the 'F508 heterozygous CF child. Login to comment 43 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly542* Surprisingly, none of the defined mutations (G542X, R553X, G551D, 1717 - 1G→A) which occur relatively frequently in exon 11 in Caucasian populations was identified in our Algerian population. Login to comment 55 ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys In our study, we identified 3 homozygous CF patients: 'F508/'F508, N1303K/N1303K, 711 + 1G→T/711 + 1G→T. Login to comment 57 ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys The N1303K/N1303K homozygous patient from related parents was a 4-year-old girl with pancreatic insufficiency and serious pulmonary disease with P. aeruginosa colonization, and 3 positive sweat chloride tests confirmed the CF diagnosis. Login to comment 74 ABCC7 p.Asn1303Lys ABCC7 p.Val754Met Four other mutations have been identified: Hum Hered 1999;49:81-84 Loumi/Baghriche/Delpech/Kaplan/ Bienvenu N1303K (20%), 711 + 1G→T (10%), 1812 - 1G→A (5%) and V754M (5%). Login to comment