• PMID: 17086185
• Gene Name: MAMLD1
• Condition: Hypospadias
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Hypospadias

CXorf6 is a causative gene for hypospadias

Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T, Nordenskjöld A, Camerino G, Kretz C, Buj-Bello A, Laporte J, Yamada G, Morohashi K, Ogata T.

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. FAU - Fukami, Maki AU - Fukami M AD - Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan. FAU - Wada, Yuka AU - Wada Y FAU - Miyabayashi, Kanako AU - Miyabayashi K FAU - Nishino, Ichizo AU - Nishino I FAU - Hasegawa, Tomonobu AU - Hasegawa T FAU - Nordenskjöld, Agneta AU - Nordenskjöld A FAU - Camerino, Giovanna AU - Camerino G FAU - Kretz, Christine AU - Kretz C FAU - Buj-Bello, Anna AU - Buj-Bello A FAU - Laporte, Jocelyn AU - Laporte J FAU - Yamada, Gen AU - Yamada G FAU - Morohashi, Ken-Ichirou AU - Morohashi K