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Bosley-Salih-Alorainy syndrome in patients from India

Siddaramappa J Patil¹, Gadabanahalli Ashok Karthik², Gandham SriLakshmi Bhavani³

¹Division of Medical Genetics, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India.

American Journal of Medical Genetics. Part A

|September 1, 2020

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

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