Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

Tischfield M., Bosley T., Salih M., Alorainy I., Sener E., Nester M., ...More

NATURE GENETICS, vol.37, no.10, pp.1035-1037, 2005 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 10
  • Publication Date: 2005
  • Doi Number: 10.1038/ng1636
  • Journal Name: NATURE GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1035-1037
  • Hacettepe University Affiliated: No

Abstract

We identified homozygous truncating mutations in HOXA1 in three genetically isolated human populations. The resulting phenotype includes horizontal gaze abnormalities, deafness, facial weakness, hypoventilation, vascular malformations of the internal carotid arteries and cardiac outflow tract, mental retardation and autism spectrum disorder. This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system.