Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.

ABSTRACT:

Background

Neurological disorders are a common cause of morbidity and mortality within Pakistani populations. It is one of the most important challenges in healthcare, with significant life-long socio-economic burden.

Methods

We investigated the cause of disease in three Pakistani families in individuals with unexplained autosomal recessive neurological conditions, using both genome-wide SNP mapping and whole exome sequencing (WES) of affected individuals.

Results

We identified a homozygous splice site variant (NM_000521:c.445 + 1G > T) in the hexosaminidase B (HEXB) gene confirming a diagnosis of Sandhoff disease (SD; type II GM2-gangliosidosis), an autosomal recessive lysosomal storage disorder caused by deficiency of hexosaminidases in a single family. In two furth

SUBMITTER: Khan S 

PROVIDER: S-EPMC6921424 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature