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The clinical spectrum of homozygous HOXA1 mutations

Thomas M Bosley1, Ibrahim A Alorainy, Mustafa A Salih

  • 1The Neuro-ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. bosley-thomas@cooperhealth.edu

American Journal of Medical Genetics. Part A
|April 17, 2008
PubMed

Insights

Researchers identified new cases of Bosley-Salih-Alorainy syndrome (BSAS) and Athabascan brainstem dysgenesis syndrome (ABDS) linked to HOXA1 gene mutations. These findings expand the known spectrum of these rare genetic disorders.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • HOXA1 mutations are associated with rare genetic disorders like Bosley-Salih-Alorainy syndrome (BSAS) and Athabascan brainstem dysgenesis syndrome (ABDS).
  • Understanding the full clinical spectrum and genetic basis of these syndromes is crucial for diagnosis and management.

Observation:

  • Nine individuals from six families with homozygous HOXA1 mutations were studied.
  • Patients presented with features of BSAS or ABDS, including congenital heart disease, deafness, horizontal gaze abnormalities, and varying degrees of intellectual disability.

Findings:

  • Congenital heart disease occurred in BSAS patients, sometimes without other typical features, suggesting it can be an isolated manifestation.
  • Mild mental retardation was observed in ABDS probands.
  • The findings blur the clinical distinctions between BSAS and ABDS, indicating a broader phenotype and genotype spectrum for homozygous HOXA1 mutations.

Implications:

  • These cases expand the known clinical and genetic spectrum of homozygous HOXA1 mutations.
  • The study highlights the potential for cardiovascular malformations as an isolated feature of HOXA1-related disorders.
  • Recognizing this broader spectrum aids in diagnosing and understanding these complex genetic conditions.

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