ABCC7 p.Arg117Met
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PMID: 18796364
[PubMed]
Chiang HS et al: "CFTR mutation analysis of a Caucasian father with congenital bilateral absence of vas deferens, a Taiwanese mother, and twins resulting from ICSI procedure."
No.
Sentence
Comment
130
Counseling before ICSI for couples with CBAVD, which causes male infertility, has become essential in Western societies.11,12 Affected triplets with one classic CF and two children with mild CF symptoms derived from a CBAVD father and a ⌬F508 carrier mother has been reported.13 Partial penetrance of the p.R117M mutation depends on the Cis-located 5T tract in intron 8 and possibly also by the nuclear-modified gene which was also found in CFTR mutation screening in this case.
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ABCC7 p.Arg117Met 18796364:130:314
status: NEW