CXorf6 is a causative gene for hypospadias

Maki Fukami, Yuka Wada, Kanako Miyabayashi, Ichizo Nishino, Tomonobu Hasegawa, Giovanna Camerino, Christine Kretz, Anna Buj-Bello, Jocelyn Laporte, Gen Yamada, Ken Ichirou Morohashi, Tsutomu Ogata

Research output: Contribution to journalArticlepeer-review

127 Citations (Scopus)


46,XY disorders of sex development (DSD) refer to a wide range of abnormal genitalia, including hypospadias, which affects ∼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.

Original languageEnglish
Pages (from-to)1369-1371
Number of pages3
JournalNature genetics
Issue number12
Publication statusPublished - 2006 Dec 5

ASJC Scopus subject areas

  • Genetics


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