title: Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene.
abstract: Mutations in DAX-1 gene cause congenital adrenal hypoplasia (AHC). We present a male patient affected by X-linked adrenal hypoplasia congenita due to a novel DAX-1 missense mutation. The mutation V287G affects the C-terminal end of the DAX-1 protein which plays an important role in functioning of the receptor. In addition, our patient presented an inappropriate tall stature and renal ectopy, which have not been described in AHC so far.
authors.affiliation: Department of Pediatrics, Federico II University, Via S. Pansini 5, I-80131 Naples, Italy. franzese@unina.it
authors.forename: Adriana
authors.initials: A
authors.lastname: Franzese
authors.forename: Nicola
authors.initials: N
authors.lastname: Brunetti-Pierri
authors.forename: Maria Immacolata
authors.initials: MI
authors.lastname: Spagnuolo
authors.forename: Raffaella
authors.initials: R
authors.lastname: Spadaro
authors.forename: Michela
authors.initials: M
authors.lastname: Giugliano
authors.forename: Tokuo
authors.initials: T
authors.lastname: Mukai
authors.forename: Giuliana
authors.initials: G
authors.lastname: Valerio
mesh_terms: D000307:Adrenal Gland Diseases / Q000150:complications / Q000151:congenital / Q000235:genetics*; D000328:Adult; D057137:DAX-1 Orphan Nuclear Receptor; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000150:complications; D006130:Growth Disorders / Q000150:complications / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D020125:Mutation, Missense; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins / 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; D004247:DNA