The clinical spectrum of homozygous <i>HOXA1</i> mutations

TLDR

The study reports nine previously unreported individuals with homozygous HOXA1 mutations linked to Bosley–Salih–Alorainy syndrome or Athabascan brainstem dysgenesis syndrome. The authors identified these cases from six families and characterized their clinical features. Four BSAS patients had congenital heart disease, two of whom lacked deafness or horizontal gaze restriction, suggesting cardiovascular malformations can be an isolated feature of homozygous HOXA1 mutations, while two ABDS probands had mild mental retardation, and overall these cases blur the clinical distinctions between BSAS and ABDS and broaden the phenotype and genotype spectrum. © 2008 Wiley‑Liss, Inc.

Abstract

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. © 2008 Wiley‐Liss, Inc.