A Point Mutation in the XNP Gene, Associated With an ATR-X Phenotype Without Alpha-Thalassemia

Eur J Hum Genet. 1996;4(6):316-20. doi: 10.1159/000472225.


We have previously reported the isolation of a gene from Xq13, coding for a putative regulator of transcription (XNP). It is a member of the helicase family, and has now been shown to be the gene involved in the X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. ATR-X mutations were only found in the 3'-part of the coding sequence, which includes the helicase domains. However, no ATR-X mutation has yet been found in one of the seven conserved helicase domains. In this paper, we report a mutation in XNP, segregating in a family presenting an "ATR-X' phenotype without alpha-thalassemia, that causes a proline to serine transition in the helicase II domain.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA Helicases / genetics*
  • DNA, Complementary
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Molecular Sequence Data
  • Nuclear Proteins / genetics*
  • Pedigree
  • Phenotype
  • Point Mutation*
  • Syndrome
  • X-linked Nuclear Protein
  • alpha-Thalassemia / genetics


  • DNA, Complementary
  • Nuclear Proteins
  • DNA Helicases
  • ATRX protein, human
  • X-linked Nuclear Protein

Associated data

  • GENBANK/L34363