Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failure | Zendy

G.H. Westerveld | Zendy; Cindy M. Korver | Zendy; Ans M. M. van Pelt | Zendy; N. J. Leschot | Zendy; Fulco van der Veen | Zendy; Sjoerd Repping | Zendy; Maria Lombardi | Zendy

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Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failure

Author(s) -

G.H. Westerveld,

Cindy M. Korver,

Ans M. M. van Pelt,

N. J. Leschot,

Fulco van der Veen,

Sjoerd Repping,

Maria Lombardi

Publication year - 2006

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/del293

Subject(s) - biology , azoospermia , genetics , male infertility , spermatogenesis , gene , mutation , single nucleotide polymorphism , infertility , endocrinology , genotype , pregnancy

Because of the common use of ICSI and the potential genetic aetiology of spermatogenic failure, concern has been raised about transmitting genetic disorders to ICSI offspring. However, to date, in only approximately 15% of all cases of spermatogenic failure, an underlying genetic cause can be identified. We have previously established an association between spermatogenic failure and chromosomal region 11p15. In this study, we set out to explore whether NALP14, a gene recently mapped to 11p15, has a function in spermatogenesis and whether mutations in NALP14 can cause spermatogenic failure.

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