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Bosley–Salih–Alorainy syndrome in patients from India
Author(s) -
Patil Siddaramappa J.,
Karthik Gadabanahalli Ashok,
Bhavani Gandham SriLakshmi,
Bhat Venkatraman,
Matalia Jyoti,
Shah Jhanvi,
Shukla Anju,
Girisha Katta Mohan
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61809
Subject(s) - exon , phenotype , dysgenesis , genetics , allele , biology , brainstem , medicine , gene
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.