GBA2 Mutations Cause a Marinesco-Sjogren-Like Syndrome: Genetic and Biochemical Studies.

ABSTRACT:

Background

With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families with an autosomal recessive cerebellar ataxia with cataracts and mental retardation.

Methods and results

Single nucleotide polymorphism (SNP) chip analysis followed by Exome sequencing identified a 2 bp homozygous deletion in GBA2 in both families, c.1528_1529del [p.Met510Valfs*17]. Furthermore, we report the biochemical characterization of GBA2 in these patients. Our studies show that a reduced activity of GBA2 is sufficient to elevate the levels of glucosylceramide to similar levels as seen in Gaucher disease. Furthermore, leucocytes seem to be the proper

SUBMITTER: Haugarvoll K 

PROVIDER: S-EPMC5215700 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature