ABCMdb

PMID: 15970608

Mei-Zahav M, Durie P, Zielenski J, Solomon M, Tullis E, Tsui LC, Corey M
The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants.
Arch Dis Child. 2005 Jul;90(7):675-9., [PubMed]

Sentences

No. Mutations Sentence Comment

237 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Asp1152His Two were homozygous for rare mutations (1868A.G and D1152H) and four were heterozygous for DF508 (R117H/7T(2), R117H/5T, 5T). Login to comment 238 ABCC7 p.Arg117His ABCC7 p.Asp1152His The patients with R117H/7T, 5T, and homozygous D1152H all had nasal potential difference testing which confirmed CF. Login to comment 272 ABCC7 p.Gly551Asp ABCC7 p.Arg553* DF508 mutation was not detected in DNA from 400 individuals, while none of the exon 11 mutations G551D, R553X, or S549 were identified in DNA from 200 of these patients. Login to comment 303 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Asn ABCC7 p.Leu218* ABCC7 p.Val392Gly Table 3 CFTR gene mutations among CF patients of South Asian origin and all patients living in the same geographic region in the CF population Mutation South Asian CF population Mutation General CF population (number, % of total alleles) (number, % of total alleles) No. identified % of alleles No. identified % of alleles DF508 13 50 DF508 375 65.1 L218X 2 7.7 W1282X 16 2.8 1525-1GRA 1 3.8 G551D 15 2.6 S549N 1 3.8 G542X 10 1.7 3849+10kbCRT 1 3.8 621+1GRT 10 1.7 V392G 1 3.8 R117H 7 1.2 N1303K 7 1.2 49 others (,1%) 89 16.4 Unidentified 7 26.9 Unidentified 47 8.2 What is already known on this topic N CF is rare in populations not of European Caucasian origin N More severe disease has been reported in South Asian CF patients N DF508, the most common mutation in Caucasians, is less prevalent in South Asians What this study adds N Prevalence and clinical course of CF in children of South Asian origin is similar to that in the general Toronto population N Previous reports reflect inadequate awareness of CF in this ethnic group N The prevalence of DF508 is confirmed to be lower in South Asians than other Caucasian groups Mei-Zahav, Durie, Zielenski, et al www.archdischild.com Authors` affiliations . Login to comment