Bosley-Salih-Alorainy syndrome in patients from India.

Siddaramappa Jagdish PatilGadabanahalli Ashok KarthikGandham SriLakshmi BhavaniVenkatraman BhatJyoti MataliaJhanvi ShahAnju Shukla Katta Mohan Girisha

Published in: American journal of medical genetics. Part A (2020)

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.

Keyphrases

saudi arabia
end stage renal disease
case report
copy number
newly diagnosed
long non coding rna
chronic kidney disease
long noncoding rna
peritoneal dialysis
patient reported outcomes
intellectual disability
genetic diversity