Nature Genetics
37, 1035 - 1037 (2005)
Published online: 11 September 2005; | doi:10.1038/ng1636
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive developmentMax A Tischfield1, 2, Thomas M Bosley3, 4, Mustafa A M Salih5, Ibrahim A Alorainy6, Emin C Sener7, Michael J Nester4, Darren T Oystreck3, Wai-Man Chan1, Caroline Andrews1, Robert P Erickson8
& Elizabeth C Engle1, 2, 91
Department of Medicine, Program in Genomics, Children's Hospital Boston, Boston, Massachusetts, USA. 2
Program in Neuroscience, Division of Medical Sciences, Harvard Medical School, Boston, Massachusetts, 02115, USA. 3
Neuro-ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. 4
Neuroscience Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. 5
Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Khalid University Hospital, Riyadh, Saudi Arabia. 6
Department of Radiology and Diagnostic Imaging, College of Medicine, King Saud University, Riyadh, Saudi Arabia. 7
Department of Ophthalmology, Hacettepe University Hospital, Ankara, Turkey. 8
Department of Pediatrics, Molecular and Cellular Biology, University of Arizona College of Medicine, Tucson, Arizona, USA. 9
Department of Neurology, Children's Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA.
Correspondence should be addressed to Elizabeth C Engle engle@enders.tch.harvard.edu 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.
MORE ARTICLES LIKE THIS These links to content published by NPG are automatically generated.
|
