ABCMdb

PMID: 18304229

Sakamoto H, Yajima T, Suzuki K, Ogawa Y
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens.
Int J Urol. 2008 Mar;15(3):270-1., [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCC7 p.Ile556Val A CFTR gene mutation of I556V was found. Login to comment 20 ABCC7 p.Ile556Val However, a CFTR gene mutation of I556V (exon11, 556A → G) in one allele was detected by genomic DNA extraction from the peripheral blood sample and amplification of exons 10 and 11 in the CFTR gene by polymerase chain reaction, followed by sequence analysis, which was analyzed after obtaining an informed consent. Login to comment 28 ABCC7 p.Glu217Gly ABCC7 p.Gln1352His ABCC7 p.Gln1352His ABCC7 p.Gly1349Ser ABCC7 p.Trp216* Anzai et al. showed, using polymerase chain reaction (PCR) amplification single-strand confirmation polymorphism analysis and direct sequencing to analyze all 27 exons of the CFTR gene in 19 Japanese CBAVD patients, that three rare CFTR gene mutations (W216X, G1349S, Q1352H) were found in seven CFTR alleles of five patients, and IVS8-5T was positive in 11 alleles of 11 patients.2 Namely, 58% of the 19 CBAVD patients had at least one mutated CFTR allele.2 Moreover, three (5.7%) of 53 normal individuals had a missense mutation in one of their CFTR genes (E217G in 1, and Q1352H in 2).2 CFTR gene mutations may be frequently associated with Japanese CBAVD patients. Login to comment 29 ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Ile556Val In our case, we analyzed exons 10 and 11 in the CFTR gene to evaluate the possibility of transmission of CF to newborn because common mutations such as D508, DI507, 551D, G542X, and R553X associated with CF in Caucasians was frequently identified in these exons.1 I556V found in the present case is a mutation initially reported in a French male who had asthma-like bronchopathy and chronic diarrhea, which was recently identified in 10% to 15% of Asians irrespective of chronic respiratory diseases.7 CBAVD is suggested based on the identification of azoospermia with either normal-sized or slightly smaller testes, a non-palpable vas deferens, characteristic imaging findings and the physical and biological properties of the ejaculate: small volume (<2 mL), low pH (<7), and low fructose concentration.1 Most CBAVD patients have defects in the derivatives of the wolffian duct system presenting as an absence of the distal portion of the epididymides, seminal vesicle atrophy or absence, and the absence of the vas deferens by scrotal and transrectal ultrasonography.4,5,9 However, not all men with CBAVD have extensive abnormalities of the derivatives of the wolffian duct system.5,9 Previous studies showed that seminal vesicle anomalies with either agenesis, hypoplasia, or cystic dysplasia occur in 36% to 92% of men with CBAVD.4-6,9 Jarvi et al. showed that all CBAVD patients with at least one CFTR gene mutation had abnormalities of both the seminal vesicles and ampulla of the vas deferens and that 50% of CBAVD patients with no detectable CFTR gene mutation had a normal ampulla of the vas deferens and seminal vesicles.5 Therefore, the frequency and severity of the wolffian duct malformations in the CBAVD patients may be related directly to the CFTR genotype.5 Moreover, previous studies report that 11% to 21% of CBAVD patients had renal agenesis.6,9 Renal agenesis has been reported to occur predominately in men with a congenital absence of vas deferens (CAVD) without CFTR gene mutations.9 However, Casales et al. showed CFTR gene mutations in five of 16 CAVD patients (bilateral absence in six, and unilateral absence in 10) with renal agenesis.6 In addition, CAVD may also be associated with cryptorchidism and inguinal hernia.6 The prevalence of the CFTR gene mutation carrier in the Japanese population may be approximate to that of the Caucasian.1,2 Moreover, infertile patients with CBAVD can now be treated by assisted reproduction technology.1 Genetic counseling may be recommended for any couple attempting assisted reproduction technology when the man has defects of the vas deferens.1-3,8 References 1 Jarzabek K, Zbucka M, Pepiñski W et al. Cystic fibrosis as a cause of infertility. Login to comment