title: DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
abstract: Abnormality of the DAX-1 gene accounts for many instances of congenital adrenal hypoplasia. In the present study, we performed molecular genetic analysis of DAX-1 in 4 unrelated Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. A double-point mutation for V126M and W171X was identified in 1 family and a complex de novo insertion-deletion mutation was identified in a second. The DAX-1 gene was entirely deleted in a 3rd patient as well as in a 4th with the additional feature of glycerol kinase deficiency.
authors.affiliation: Department of Pediatrics, Nagasaki University School of Medicine, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Kinoshita
authors.forename: M
authors.initials: M
authors.lastname: Yoshimoto
authors.forename: K
authors.initials: K
authors.lastname: Motomura
authors.forename: T
authors.initials: T
authors.lastname: Kawaguchi
authors.forename: R
authors.initials: R
authors.lastname: Mori
authors.forename: T
authors.initials: T
authors.lastname: Baba
authors.forename: K
authors.initials: K
authors.lastname: Nishijo
authors.forename: T
authors.initials: T
authors.lastname: Hasegawa
authors.forename: T
authors.initials: T
authors.lastname: Momoi
authors.forename: T
authors.initials: T
authors.lastname: Yorihuji
mesh_terms: D000293:Adolescent; D000309:Adrenal Insufficiency / Q000151:congenital* / Q000235:genetics*; D000328:Adult; D001483:Base Sequence; D057137:DAX-1 Orphan Nuclear Receptor; D004247:DNA / Q000737:chemistry; D004268:DNA-Binding Proteins / Q000235:genetics*; D017353:Gene Deletion; D005991:Glycerol Kinase / Q000172:deficiency; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D014157:Transcription Factors; D004247:DNA; D005991:Glycerol Kinase