A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency.

ABSTRACT:

Background

Asparagine synthetase deficiency (ASNSD) is a rare pediatric congenital disorder that clinically manifests into severe progressive microcephaly, global developmental delay, spastic quadriplegia, and refractory seizures. ASNSD is caused by inheritable autosomal recessive mutations in the asparagine synthetase (ASNS) gene.

Methods

We performed whole-exome sequencing using the patient's peripheral blood, and newly discovered mutations were subsequently verified in the patient's parents via Sanger sequencing. Software-based bioinformatics analyses (protein sequence conservation analysis, prediction of protein phosphorylation sites, protein structure modeling, and protein stability prediction) were performed to investigate and deduce their downstream effects.

Result

SUBMITTER: Wang C 

PROVIDER: S-EPMC7284041 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature