The Clinical Spectrum of Homozygous HOXA1 Mutations

We report nine new individuals from six families who have homozygous mutations of HOXA1 with either the Bosley-Salih-Alorainy Syndrome (BSAS) or the Athabascan Brainstem Dysgenesis Syndrome (ABDS). Congenital heart disease was present in four BSAS patients, two of whom had neither deafness nor horiz...

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Bibliographic Details
Published in:American Journal of Medical Genetics Part A
Main Authors: Bosley, Thomas M., Alorainy, Ibrahim A., Salih, Mustafa A., Aldhalaan, Hesham M., Abu-Amero, Khaled K., Oystreck, Darren T., Tischfield, Max A, Engle, Elizabeth C., Erickson, Robert P.
Format: Text
Language:English
Published: 2008
Subjects:
Article
Athabascan
Online Access:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517166
http://www.ncbi.nlm.nih.gov/pubmed/18412118
https://doi.org/10.1002/ajmg.a.32262
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Summary:We report nine new individuals from six families who have homozygous mutations of HOXA1 with either the Bosley-Salih-Alorainy Syndrome (BSAS) or the Athabascan Brainstem Dysgenesis Syndrome (ABDS). Congenital heart disease was present in four BSAS patients, two of whom had neither deafness nor horizontal gaze restriction. Two ABDS probands had relatively mild mental retardation. These individuals blur the clinical distinctions between the BSAS and ABDS HOXA1 variants and broaden the phenotype and genotype of the homozygous HOXA1 mutation clinical spectrum.

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