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

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)1035-1037
Number of pages3
JournalNature genetics
Volume37
Issue number10
DOIs
StatePublished - Oct 1 2005
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Tischfield, M. A., Bosley, T. M., Salih, M. A. M., Alorainy, I. A., Sener, E. C., Nester, M. J., Oystreck, D. T., Chan, W. M., Andrews, C., Erickson, R. P., & Engle, E. C. (2005). Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nature genetics, 37(10), 1035-1037. https://doi.org/10.1038/ng1636