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Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations
Author(s) -
de Meeus Anne,
Guittard Caroline,
Desgeorges Marie,
Carles Soukeyna,
Demaille Jacques,
Claustres Mireille
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)11:6<480::aid-humu10>3.0.co;2-z
Subject(s) - biology , vas deferens , genetics , allele , cystic fibrosis , aplasia , compound heterozygosity , mutation , sanger sequencing , intron , coding region , sterility , gene , anatomy
Congenital bilateral aplasia of vas deferens (CBAVD), a form of male sterility, has been suggested to represent a "genital" form of cystic fibrosis (CF), as mutations in the CFTR gene have been identified in most patients with this condition. Interestingly, the 5T allele in intron 8 appeared to be the most frequent mutation associated with CBAVD. However, the molecular basis of CBAVD is not completely understood. We have analysed the complete coding and flanking CFTR sequences by PCR‐DGGE in 64 men with CBAVD from southern France with the aim to list any sequence alteration. Fourty‐two of the 64 patients (65.6%) had mutations on both copies of the CFTR gene, including one patient with two mutations in the same copy (DF508 + A1067T). The 5T allele was present in 21/64 cases (33%). Six of the 28 different mutations identified in this study had never been described previously, and appeared to be specific to CBAVD (P111L, M244K, A1364V, G544V, 2896insAG, ‐33G→A). Hum Mutat 11:480, 1998. © 1998 Wiley‐Liss, Inc.