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.
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.
Franzese
Adriana
A
Department of Pediatrics, Federico II University, Via S. Pansini 5, I-80131 Naples, Italy. franzese@unina.it
Brunetti-Pierri
Nicola
N
Spagnuolo
Maria Immacolata
MI
Spadaro
Raffaella
R
Giugliano
Michela
M
Mukai
Tokuo
T
Valerio
Giuliana
G
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*
D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D004247:DNA