ABCMdb

PMID: 10402399

Jakubiczka S, Bettecken T, Stumm M, Nickel I, Musebeck J, Krebs P, Fischer C, Kleinstein J, Wieacker P
Frequency of CFTR gene mutations in males participating in an ICSI programme.
Hum Reprod. 1999 Jul;14(7):1833-4., [PubMed]

Sentences

No. Mutations Sentence Comment

13 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Ile Materials and methods CFTR screening included the most frequent CFTR mutations in the German population (R347P, ∆F508, G542X, S549I,N,R(A→C), G551D, R553X, N1303K, and 3849ϩ10kbC→T) (Do¨rk et al., 1994) as well as the mutation R117H and the analysis of the IVS8-T haplotype. Login to comment 14 ABCC7 p.Arg117His Both, R117H and the splice variant IVS8-5T are frequently found in males affected by congenital bilateral or congenital unilateral absence of the vas deferens (CBAVD/CUAVD) (e.g. Casals et al., 1995; Chillon et al., 1995; Do¨rk et al., 1997). Login to comment 32 ABCC7 p.Arg117His ABCC7 p.Arg117His It is S.Jakubiczka et al. Table I. Frequency of CFTR mutations in 197 males affected by idiopathic infertility and 150 of their female partners Male patients IVS8T alleles n 5/5 5/7 5/9 7/7 7/9 9/9 Oligozoospermia 8 - - - 7 N/N 1 ∆F508/N - Asthenozoospermia 14 - - - 10 N/N 1 N/N - 3 ∆F508/N Oligoasthenozoospermia 125 - 11 N/N - 85 N/N 22 N/N 1 N/N 1 R117H/N 5∆F508/N OAT syndrome 23 - - - 14 N/N 6 N/N 1 N/N 1 R117H/N 1 ∆F508/N Azoospermia 27 - 1 N/N 1 ∆F508/N 22 N/N 3 N/N - Total no. Login to comment 33 ABCC7 p.Arg117His male patients 197 0 12 N/N 138 N/N 32 N/N 2 N/N 1 ∆F508/N 2 R117H/N 10 ∆F508/N Total no. Login to comment 40 ABCC7 p.Gly542* The most obvious difference between the studies lies in the frequency of the mutation G542X, accounting for eight out of 18 mutations detected among 101 males by van der Ven et al. (1996) but not found in any of our probands. Login to comment