ABCMdb

PMID: 22191729

Lobna HL, Ali B, Hammadi A
Analysis of cystic fibrosis transmembrane regulator and azoospermia factor polymorphisms in infertile men in relation to other abnormalities.
Andrologia. 2012 May;44 Suppl 1:848-50. doi: 10.1111/j.1439-0272.2011.01250.x. Epub 2011 Dec 22., [PubMed]

Sentences

No. Mutations Sentence Comment

35 ABCC7 p.Trp1282* ABCC7 p.Ile148Thr Table 1 Summary of reported compound genetic abnormalities in CFTR patients References CFTR Karyotype Y-del SA Exam FSH Testis histology Current study (2011) )/), 5T/5T 46,XY AZFa+b Azoo Bil Vas NA NA Current study (2011) )/), 6T/6T 46,XY AZFa+b Azoo Bil Vas NA NA Current study (2011) )/), 5T/5T 46,XY AZFa+b+c Azoo Bil Vas NA NA Karpman et al. (2007) W1282X/), WT/WT 46,XY AZFb+c Azoo Bil Vas 4 Late, incomplete maturation Karpman et al. (2007) I148T/), WT/WT 46,XY AZFb+c OAT Bil Vas 19 NA Schulz et al. (2006) F508/), WT/WT 45,XY, der(14;22) None OAT Bil Vas NA NA Dohle et al. (2002) F508/), 7T/9T 46,XY AZFc OAT Hpogonadism 7.3 NA Dohle et al. (2002) R117/H/) 47,XXY None Azoo Hpogonadism 11 NA Meng et al. (2001) F508/), 7T/9T 46,XY AZFb Azoo CBAVD NA Sertoli cell only Black et al. (2000) )/), 5T/9T 46,XY, inv(6)(p12q21) None Azoo CBAVD 8.8 Late, incomplete maturation Azoo, azoospermia; Bill Vas, bilateral vas deferens present; CBAVD, congenital bilateral absence of the vas deferens; CFTR, cystic fibrosis transmembrane receptor; FSH, follicle stimulating hormone, NA, not available; OAT, oligoasthenoteratozoospermia; SA, semen analysis; WT, wild type; AZF, Azoospermia factor. Login to comment