title: CXorf6 is a causative gene for hypospadias.
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.
authors.affiliation: Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.
authors.forename: Maki
authors.initials: M
authors.lastname: Fukami
authors.forename: Yuka
authors.initials: Y
authors.lastname: Wada
authors.forename: Kanako
authors.initials: K
authors.lastname: Miyabayashi
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Agneta
authors.initials: A
authors.lastname: Nordenskjöld
authors.forename: Giovanna
authors.initials: G
authors.lastname: Camerino
authors.forename: Christine
authors.initials: C
authors.lastname: Kretz
authors.forename: Anna
authors.initials: A
authors.lastname: Buj-Bello
authors.forename: Jocelyn
authors.initials: J
authors.lastname: Laporte
authors.forename: Gen
authors.initials: G
authors.lastname: Yamada
authors.forename: Ken-Ichirou
authors.initials: K
authors.lastname: Morohashi
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Ogata
mesh_terms: 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
chemical_list: D018389:Codon, Nonsense; D004247:DNA