The clinical spectrum of homozygous HOXA1 mutations

Am J Med Genet A. 2008 May 15;146A(10):1235-40. doi: 10.1002/ajmg.a.32262.


We describe nine previously unreported individuals from six families who have homozygous mutations of HOXA1 and either the Bosley-Salih-Alorainy syndrome (BSAS) or the Athabascan brainstem dysgenesis syndrome (ABDS). Congenital heart disease was present in four BSAS patients, two of whom had neither deafness nor horizontal gaze restriction, thus raising the possibility that cardiovascular malformations might be a clinically isolated, or relatively isolated, manifestation of homozygous HOXA1 mutations. Two ABDS probands had relatively mild mental retardation. These individuals blur the clinical distinctions between the BSAS and ABDS HOXA1 variants and broaden the phenotype and genotype of the homozygous HOXA1 mutation clinical spectrum.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / physiopathology*
  • Adolescent
  • Adult
  • Cardiovascular Abnormalities / genetics
  • Cerebrovascular Disorders / genetics
  • Child
  • Child, Preschool
  • Cognition Disorders / genetics
  • Deafness / genetics
  • Family
  • Female
  • Genotype
  • Homeodomain Proteins / genetics*
  • Homozygote*
  • Humans
  • Indians, North American
  • Male
  • Musculoskeletal Abnormalities / genetics
  • Mutation*
  • Nervous System Malformations / genetics
  • Ocular Motility Disorders / genetics
  • Phenotype
  • Saudi Arabia
  • Syndrome
  • Transcription Factors / genetics*


  • Homeodomain Proteins
  • Transcription Factors
  • homeobox A1 protein