Article
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
The Journal of clinical endocrinology and metabolism - 1 Oct 2015
Choi Jin-Ho, Balasubramanian Ravikumar, Lee Phil H, Shaw Natalie D, Hall Janet E, Plummer Lacey, Buck Cassandra L, Kottler Marie-Laure, Jarzabek Katarzyna, Wołczynski Sławomir, Quinton Richard, Latronico Ana Claudia, Dode Catherine, Ogata Tsutomu, Kim Hyung-Goo, Layman Lawrence C, Gusella James F, Crowley William F
Abstract excerpt
CONTEXT: Loss of function (LoF) mutations in more than 20 genes are now known to cause isolated GnRH deficiency (IGD) in humans. Most causal IGD mutations are typically private, ie, limited to a single individual/pedigree. However, somewhat paradoxically, four IGD genes (GNRH1, TAC3, PROKR2, and GNRHR) have been shown to harbor LoF founder mutations that are shared by multiple unrelated individuals. It is not...
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