A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review.

ABSTRACT:

Background

The ASNS (ASNS, MIM 108370) gene variations are responsible for asparagine synthetase deficiency (ASNSD, MIM 615574), a very rare autosomal recessive disease characterized by cerebral anomalies. These patients have congenital microcephaly, progressive encephalopathy, severe intellectual disability, and intractable seizures.

Method

Clinical characteristics of the patient were collected. Exome sequencing was used for the identification of variants. Sanger sequencing was used to confirm the variant in the target region. The structure of the protein was checked using the DynaMut2 web server.

Results

The proband is an 11-year-old Iranian-Azeri girl with primary microcephaly and severe intellectual disability in a family with a consanguineous marriage. Symptoms e

SUBMITTER: Jahanpanah M 

PROVIDER: S-EPMC10976422 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature