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.

中文翻译：

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印度患者的Bosley-Salih-Alorainy综合征。

双等位基因HOXA1致病变异在临床上表现为两种不同的综合征，即Bosley–Salih–Alorainy综合征（BSAS）和Athabascan脑干发育不全综合征，主要报道于沙特阿拉伯和北美西南部的两个不同人群。在这里，我们报告由新的纯合外显子2 HOXA1致病性变异引起的BSAS表型的印度裔同胞。