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Brief Communication

Nature Genetics 37, 1035–1037 (1 October 2005) | doi:10.1038/ng1636

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

Max A Tischfield , 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

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.