The clinical spectrum of homozygous HOXA1 mutations

Thomas M. Bosley, Ibrahim A. Alorainy, Mustafa A. Salih, Hesham M. Aldhalaan, Khaled K. Abu-Amero, Darren T. Oystreck, Max A. Tischfield, Elizabeth C. Engle, Robert P. Erickson

Research output: Contribution to journalArticlepeer-review

80 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1235-1240
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number10
StatePublished - May 15 2008
Externally publishedYes


  • ABDS
  • BSAS
  • Cerebrovascular malformation
  • Deafness
  • Duane syndrome
  • HOXA1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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