Bosley-Salih-Alorainy syndrome in patients from India

Am J Med Genet A. 2020 Nov;182(11):2699-2703. doi: 10.1002/ajmg.a.61809. Epub 2020 Aug 31.

Abstract

Bi-allelic HOXA1 pathogenic variants clinically manifest as two distinct syndromes, Bosley-Salih-Alorainy syndrome (BSAS) and Athabascan brainstem dysgenesis syndrome, mainly reported in two different populations from Saudi Arabia and southwest North America, respectively. Here we report two siblings of Indian origin with BSAS phenotype caused by a novel homozygous exon 2 HOXA1 pathogenic variants.

Keywords: Athabascan brainstem dysgenesis syndrome; Bosley-Salih-Alorainy syndrome; horizontal gaze palsy; internal carotid artery hypoplasia/aplasia; motor developmental delay; sensorineural deafness.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Brain Stem / abnormalities*
  • Brain Stem / pathology
  • Female
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / pathology*
  • Homeodomain Proteins / genetics*
  • Homozygote*
  • Humans
  • India
  • Male
  • Mutation*
  • Nervous System Malformations / genetics
  • Nervous System Malformations / pathology*
  • Ocular Motility Disorders / genetics
  • Ocular Motility Disorders / pathology*
  • Phenotype*
  • Transcription Factors / genetics*
  • Young Adult

Substances

  • Homeodomain Proteins
  • Transcription Factors
  • homeobox A1 protein

Supplementary concepts

  • Athabaskan brainstem dysgenesis