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- Title
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.
- Authors
Tischfield, Max A; Bosley, Thomas M; Salih, Mustafa A M; Alorainy, Ibrahim A; Sener, Emin C; Nester, Michael J; Oystreck, Darren T; Chan, Wai-Man; Andrews, Caroline; Erickson, Robert P; Engle, Elizabeth C
- 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.
- Publication
Nature genetics, 2005, Vol 37, Issue 10, p1035
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1636