2. Academic Validation
  3. CXorf6 is a causative gene for hypospadias

CXorf6 is a causative gene for hypospadias

  • Nat Genet. 2006 Dec;38(12):1369-71. doi: 10.1038/ng1900.
Maki Fukami 1,  Yuka Wada,  Kanako Miyabayashi,  Ichizo Nishino,  Tomonobu Hasegawa,  Agneta Nordenskjöld,  Giovanna Camerino,  Christine Kretz,  Anna Buj-Bello,  Jocelyn Laporte,  Gen Yamada,  Ken-Ichirou Morohashi,  Tsutomu Ogata
Affiliations

Affiliation

  • 1 Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.
PMID: 17086185 DOI: 10.1038/ng1900
Abstract

46,XY disorders of sex development (DSD) refer to a wide range of abnormal genitalia, including hypospadias, which affects approximately 0.5% of male newborns. We identified three different nonsense mutations of CXorf6 in individuals with hypospadias and found that its mouse homolog was specifically expressed in fetal Sertoli and Leydig cells around the critical period for sex development. These data imply that CXorf6 is a causative gene for hypospadias.

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