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

Nat Genet. 2005 Oct;37(10):1035-7. doi: 10.1038/ng1636.

Max A Tischfield ¹, Thomas M Bosley, Mustafa A M Salih, Ibrahim A Alorainy, Emin C Sener, Michael J Nester, Darren T Oystreck, Wai-Man Chan, Caroline Andrews, Robert P Erickson, Elizabeth C Engle

Affiliations

Affiliation

1 Department of Medicine, Program in Genomics, Children's Hospital Boston, Boston, Massachusetts 02115, USA.

PMID: 16155570 DOI: 10.1038/ng1636

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.

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