CXorf6 is a causative gene for hypospadias.
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.
Fukami
Maki
M
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.
Wada
Yuka
Y
Miyabayashi
Kanako
K
Nishino
Ichizo
I
Hasegawa
Tomonobu
T
Nordenskjöld
Agneta
A
Camerino
Giovanna
G
Kretz
Christine
C
Buj-Bello
Anna
A
Laporte
Jocelyn
J
Yamada
Gen
G
Morohashi
Ken-Ichirou
K
Ogata
Tsutomu
T
D000818:Animals; D001483:Base Sequence; D041321:Chromosomes, Human, X / Q000235:genetics*; D018389:Codon, Nonsense; D004247:DNA / Q000235:genetics; D005260:Female; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D007021:Hypospadias / Q000196:embryology / Q000235:genetics*; D017403:In Situ Hybridization; D007231:Infant, Newborn; D008297:Male; D051379:Mice; D016366:Open Reading Frames; D010375:Pedigree; D011247:Pregnancy; D012733:Sex Differentiation / Q000235:genetics; D013737:Testis / Q000002:abnormalities / Q000196:embryology
D018389:Codon, Nonsense; D004247:DNA