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

Am J Med Genet A. 2005 May 15;135(1):72-4. doi: 10.1002/ajmg.a.30670.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adrenal Gland Diseases / complications
  • Adrenal Gland Diseases / congenital
  • Adrenal Gland Diseases / genetics*
  • Adult
  • DAX-1 Orphan Nuclear Receptor
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Genetic Diseases, X-Linked / complications
  • Growth Disorders / complications
  • Growth Disorders / pathology
  • Humans
  • Kidney / abnormalities*
  • Male
  • Mutation, Missense*
  • Receptors, Retinoic Acid / genetics*
  • Repressor Proteins / genetics*

Substances

  • DAX-1 Orphan Nuclear Receptor
  • DNA-Binding Proteins
  • NR0B1 protein, human
  • Receptors, Retinoic Acid
  • Repressor Proteins
  • DNA