ABCMdb

PMID: 7513294

Culard JF, Desgeorges M, Costa P, Laussel M, Razakatzara G, Navratil H, Demaille J, Claustres M
Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens.
Hum Genet. 1994 Apr;93(4):467-70., [PubMed]

Sentences

No. Mutations Sentence Comment

27 ABCC7 p.Ala1067Thr The missense mutation A 1067T in exon 17b (Ferec et al. 1992) was identified in a CBAVD patient with AF508, but, interestingly, the familial study revealed that A1067T was located on the paternally inherited CF chromosome already bearing AF508. Login to comment 30 ABCC7 p.Arg347His Two CBAVD patients were found to be compound heterozygous for AF508 and the missense mutation R347H (Cremonesi et al. 1992), whereas another was heterozygous for the frameshift mutation 2184delA+A---~G'at 2183 (Bozon et al. CF Consortium). Login to comment 31 ABCC7 p.Gly542* ABCC7 p.Ser1235Arg Two CFTR mutations were found in patients not described as CBAVD: the stop mutation G542X (Kerem et al. 1990) in a case with congenital unilateral epididymis and vas deferens aplasia (CUAVD) (patient no. 4), and the missense mutation S1235R (Cuppens et al. CF Consortium) in a patient with congenital bilateral aplasia of the tail of epididymis (CBAE) (patient no. 7). Login to comment 33 ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Gly542* ABCC7 p.Ser1235Arg ABCC7 p.Ala1067Thr CFTR mutations identified in 12 patients lacking an epididymis or vas deferens Patient Age Mutations Exon XV2c/KM19 (years) haplotypesa CBAVD 1 43 Unknown B Unknown A CBAVD 6 33 p AF508/A1067T 10/17b B m Unknown A CBAVD 8 32 p Unknown A m AF508 10 B CBAVD 9 27 p R347H 7 C m AF508 10 B CBAVD 11 31 m Unknown D p 2184delA+A---~G at 2183 13 B CBAVD 12 30 Unknown B Unknown B CBAVD 13 32 p AF508 10 B m Unknown A CBAVD 14 AF508 10 B R347H 7 C CUAVD 4 35 m G542X 11 B p Unknown D CBAE 2 28 Unknown C Unknown D CBAE 7 34 p Unknown B m S1235R 19 A CBAE 10 30 Unknown B Unknown C CBAVD, Congenital bilateral aplasia of the vas deferens; CUAVD, congenital unilateral aplasia of the vas deferens; CBAE, congenital bilateral aplasia of the epididymis; p, paternal chromosome; m, maternal chromosome The four haplotypes defined by the CFTR-linked polymorphic restriction sites XV-2c and KM-19 are as follows: A, 1-1; B, -2; C, 2-1; D, 2-2 (the absence of the restriction site for each polymorphism is defined as allele "1", and the presence of the site as allele "2") Table . Login to comment