ABCMdb

PMID: 11756355

Dohle GR, Halley DJ, Van Hemel JO, van den Ouwel AM, Pieters MH, Weber RF, Govaerts LC
Genetic risk factors in infertile men with severe oligozoospermia and azoospermia.
Hum Reprod. 2002 Jan;17(1):13-6., [PubMed]

Sentences

No. Mutations Sentence Comment

29 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser1251Asn ABCC7 p.Glu60* Twelve common mutations of the CFTR gene were tested (∆F508, A445E, G542X, 1717-1G→A, R553X, R117H, R1162X, N1303K, W1282X, 3659delC, E60X and S1251N). Login to comment 43 ABCC7 p.Arg117His 6) also carried a 14 CFTR gene mutation (R117H). Login to comment 61 ABCC7 p.Arg117His Two patients carried two risk factors: 1 Klinefelter patient (47,XXY) also carried a R117H mutation in the CFTR gene; another man was found to have both an AZFc deletion of the Y chromosome and a ∆F508 CFTR gene mutation. Login to comment 72 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Glu60* Varicocele OAT 6.4 Deletion of the azoospermia factor (AZF) region: 1 AZFc Normal Normal OAT 2.8 2 AZFc Normal Hypogonadism OAT 7.3 CFTR:∆F508/- 3 AZFc Normal Normal OAT 1.0 4 AZFc Normal Varicocele OAT 6.0 5 AZFc Normal Hypogonadism Cryptozoospermia 8.0 6 AZFc Cryptorchidism Normal Azoospermia 6.1 7 AZFc Normal Normal Azoospermia 2.4 8 AZFc Normal Hypogonadism Azoospermia 14.8 Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations (T-Stretch): 1 R117H/- (7T/-) Sinusitis CBAVD Azoospermia 2.3 2 ∆F508/- (5T/9T) Normal CBAVD Azoospermia 4.6 3 ∆F508/R117H (7T/9T) Normal CBAVD Azoospermia 4.9 4 A445E/- (5T/9T) Ejaculatory failure Partial CBAVD Azoospermia 3.3 5 E60X/- (7T/7T) MAGI Normal OAT 2.5 6 R117H/- (7T/7T) Urethral valves Varicocele OAT 4.6 7 ∆F508/- (7T/9T) Normal Normal OAT 2.8 8 ∆F508/- (7T/9T) Cryptorchidism Normal OAT 16.0 9 ∆F508/- (7T/9T) Normal Hypogonadism OAT 7.3 AZFc deletion 10 R117H/- (7T/9T) Normal Hypogonadism Azoospermia 11.0 47,XXY karyotype 11 ∆F508/- (7T/9T) Normal Normal Azoospermia 3.2 12 ∆F508/- (9T/9T) Cryptorchidism Normal Azoospermia 10.0 13 ∆F508/- (7T/7T) Normal Normal Azoospermia 20.0 14 ∆F508/- (7T/7T) Normal Normal Azoospermia 3.2 CBAVD ϭ congenital bilateral absence of the vas deferens; MAGI ϭ male accessory gland infection; OAT ϭ oligo-astheno-teratozoospermia; AZF ϭ azoospermia factor (Yq11). Login to comment