ABCMdb

PMID: 18796364

Chiang HS, Wu CC, Wu YN, Lu JF, Lin GH, Hwang JL
CFTR mutation analysis of a Caucasian father with congenital bilateral absence of vas deferens, a Taiwanese mother, and twins resulting from ICSI procedure.
J Formos Med Assoc. 2008 Sep;107(9):736-40., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCC7 p.Arg117His ABCC7 p.Arg117His 736 J Formos Med Assoc | 2008 • Vol 107 • No 9 CASE REPORT Although cystic fibrosis (CF) is one of the most common autosomal recessive diseases in Caucasians, it is very rare in Asian populations.1,2 Congenital bilateral absence of the vas deferens (CBAVD) is a newly recognized primarily genital phenotype of CF; however, it is relatively common in our practice among male infertility patients with obstructive azoospermia.3 A recent survey on a small number of Asian patients with CF transmembrane conductance regulator (CFTR) gene mutations revealed mostly unique mutations that have never been reported in Caucasian CF patients.2 Our previous study also showed that none of the major CFTR gene mutations such as ⌬F508 or p.R117H could be identified in 27 Taiwanese males with CBAVD. Login to comment 4 ABCC7 p.Leu375Phe ABCC7 p.Leu375Phe The Caucasian father with CBAVD had ⌬F508 and p.L375F mutations. Login to comment 5 ABCC7 p.Leu375Phe ABCC7 p.Leu375Phe The two children were heterozygous for the ⌬F508 and p.L375F mutations, respectively. Login to comment 112 ABCC7 p.Leu375Phe ABCC7 p.Leu375Phe Results of molecular analysis revealed that the father was compound-heterozygous for ⌬F508 (c.1652_1655del 3bp) mutation at exon 10 in one allele and p.L375F (c.1257A > C) mutation at exon 8 in the other allele of the CFTR gene, while H.S. Chiang, et al 738 J Formos Med Assoc | 2008 • Vol 107 • No 9 1 A B 2 3 4 5 6 7 8 Figure 1. Login to comment 116 ABCC7 p.Leu375Phe ABCC7 p.Leu375Phe ABCC7 p.Leu375Phe CFTR gene mutations of all members of this family CFTR gene mutation Exon 8 Exon 10 IVS8-Tn Father: Caucasian CBAVD patient p.L375F ⌬F508 T/9T Mother: Taiwanese None found None found 7T/7T Son A None found ⌬F508 7T/9T Son B p.L375F None found 7T/7T the mother was negative. Login to comment 130 ABCC7 p.Arg117Met Counseling before ICSI for couples with CBAVD, which causes male infertility, has become essential in Western societies.11,12 Affected triplets with one classic CF and two children with mild CF symptoms derived from a CBAVD father and a ⌬F508 carrier mother has been reported.13 Partial penetrance of the p.R117M mutation depends on the Cis-located 5T tract in intron 8 and possibly also by the nuclear-modified gene which was also found in CFTR mutation screening in this case. Login to comment 140 ABCC7 p.Arg117His Special characteristics of the lower frequency of CFTR gene mutations (36%) with none of the major CFTR gene mutations, such as ⌬F508 or p.R117H, were found in our previous screening of Taiwanese patients for CBAVD. Login to comment 141 ABCC7 p.Arg117His Special characteristics of the lower frequency of CFTR gene mutations (36%) with none of the major CFTR gene mutations, such as èc;F508 or p.R117H, were found in our previous screening of Taiwanese patients for CBAVD. Login to comment