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Thursday 6 October 2005

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.

- germline mutations in

  • Bosley-Salih-Alorainy syndrome (BSAS) (MIM.601536)
  • Athabaskan brainstem dysgenesis syndrome (MIM.601536)

- homozygous truncating mutations in HOXA1 result in phenotype including horizontal gaze abnormalities, deafness, facial weakness, hypoventilation, vascular malformations of the internal carotid arteries and cardiac outflow tract, mental retardation and autism spectrum disorder.

See also

- HOXs

  • HOXAs


- Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan WM, Andrews C, Erickson RP, Engle EC. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat Genet. 2005 Oct;37(10):1035-7. PMID: 16155570