The clinical spectrum of homozygous HOXA1 mutations.

Abstract

We describe nine previously unreported individuals from six families who have homozygous mutations of HOXA1 and 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, thus raising the possibility that cardiovascular malformations might be a clinically isolated, or relatively isolated, manifestation of homozygous HOXA1 mutations. 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.

DOI: 10.1002/ajmg.a.32262
0204060200920102011201220132014201520162017
Citations per Year

196 Citations

Semantic Scholar estimates that this publication has 196 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Bosley2008TheCS, title={The clinical spectrum of homozygous HOXA1 mutations.}, author={Thomas M. Bosley and Ibrahim A. Alorainy and Mustafa A Salih and Hesham M Aldhalaan and Khaled K Abu-Amero and Darren T Oystreck and Max A. Tischfield and Elizabeth C. Engle and Robert P. Erickson}, journal={American journal of medical genetics. Part A}, year={2008}, volume={146A 10}, pages={1235-40} }