Article
Whole-exome sequencing identified a homozygous BRDT mutation in a patient with acephalic spermatozoa.
Oncotarget - 21 Mar 2017
Li Lin, Sha Yanwei, Wang Xi, Li Ping, Wang Jing, Kee Kehkooi, Wang Binbin
Abstract excerpt
Acephalic spermatozoa is a very rare disorder of male infertility. Here, in a patient from from a consanguineous family, we have identified, by whole-exome sequencing, a homozygous mutation (c.G2783A, p.G928D) in the BRDT gene. The gene product, BRDT, is a testis-specific protein that is considered an important drug target for male contraception. The G928D mutation is in the P-TEFb binding domain, which mediates...
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