ABCMdb

PMID: 17254580

Karpman E, Williams DH 4th, Wilberforce S, Lipshultz LI
Compound genetic abnormalities in patients with cystic fibrosis transmembrane regulator gene mutation.
Fertil Steril. 2007 Jun;87(6):1468.e5-8. Epub 2007 Jan 24., [PubMed]

Sentences

No. Mutations Sentence Comment

9 ABCC7 p.Trp1282* ABCC7 p.Ile148Thr Result(s): Two patients (3.1%) out of 65 were identified in our database to have compound genetic abnormalities. One patient had a W1282X mutation while the other had an I148T mutation. Login to comment 43 ABCC7 p.Trp1282* This revealed that he was a heterozygous carrier of the W1282X mutation with a normal poly T tract. Login to comment 71 ABCC7 p.Ile148Thr This revealed that the patient was a heterozygous carrier of the I148T mutation for cystic fibrosis and had a wild-type poly T tract. Login to comment 100 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Ile148Thr Study Year CFTR,IVS8-T Kayotype Y-del SA Exam FSH Testis histology Current study 2006 W1282X/afa;,WT/WT 46,XY AZF baf9;c Azo Bil Vas 4 Late, incomplete maturation arrest Current study 2006 I148T/afa;, WT/WT 46, XY AZF baf9;c OAT Bil Vas 19 NA Shulz et al. (11) 2006 F508/afa; , WT/WT 45,XY, der(14;22) None OAT Bil Vas NA NA Dohle et al. (9) 2002 F508/afa;, 7T/9T 46,XY AZFc OAT Hypogonadism 7.3 NA Dohle et al. (9) 2002 R117H/afa; 47,XXY None Azo Hypogonadism 11 NA Meng et al. (10) 2001 F508/afa;, 7T/9T 46,XY AZFb Azo CBAVD NA Sertoli cell only Black et al. (8) 2000 afa;/afa;, 5T/9T 46,XY,inv (6)(p12q21) None Azo CBAVD 8.8 Late, incomplete maturation arrest Note: Azo afd; azoospermia; Bil Vas afd; bilateral vas deferens present; CBAVD afd; congenital bilateral absence of the vas deferens; CFTR afd; cystic fibrosis transmembrane receptor; FSH afd; follicle stimulating hormone; NA afd; not available; OAT afd; oligoasthenoteratozoospermia; SA afd; semen analysis; WT afd; wild type. Login to comment 104 ABCC7 p.Trp1282* ABCC7 p.Ile148Thr 1468.e Fertility and Sterility;de; cases had èc;F508 mutations, whereas these new patients were carriers of the W1282X and I148T mutations. Login to comment 105 ABCC7 p.Trp1282* The W1282X mutation is the most prevalent CFTR mutation noted in patients of Jewish ancestry compared to other ethnic groups, whereas èc;F508 is the most common in the general population (13). Login to comment 106 ABCC7 p.Ile148Thr Our second patient had an I148T mutation, which has a reported frequency of 0.09% in the cystic fibrosis population. Login to comment