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.
Pubmed ID: 16155570 RIS Download
Mesh terms: Autistic Disorder | Brain Stem | Cardiovascular Abnormalities | Carotid Artery, Internal | Cognition Disorders | Deafness | Ear, Inner | Homeodomain Proteins | Homozygote | Humans | Intellectual Disability | Ocular Motility Disorders | Saudi Arabia | Syndrome | Transcription Factors | Turkey
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