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.
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