Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene Mutation

Jilin University

Status: Unknown

Conditions: Asparagine Synthetase Deficiency; Genetic Diseases, Inborn

Study type: Observational

Funder types: Other

Identifiers

NCT03587155

ASNS-BRAIN001

Details and patient eligibility

About

The investigators propose to analyze a brain sample and/or peripheral blood by single cell RNA seq from aborted embryos with ASNS mutation.

Full description

Congenital microcephaly could cause by gene mutation. Asparagine synthetase deficiency, which is caused by ASNS mutation, is a rare autosomal recessive neurometabolic disorder. It is characterized by severe developmental delay, congenital microcephaly, seizures. The investigators found a family with ASNS mutaion. The investigators propose to analyze a brain sample and/or peripheral blood by single cell RNA seq from aborted embryos with ASNS mutation.

Enrollment: 10 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Mutation Group: Having ASNS gene mutation by DNA exon sequencing.
• Control Group: No ASNS gene mutation by DNA exon sequencing.

Exclusion criteria

• Mutation Group: N/A.
• Control Group: Having other gene mutation which also effect neurodevelopment.

Trial design

10 participants in 2 patient groups

Mutation

Description:

Embryo or infant with ASNS mutation.

Control

Description:

Embryo or infant without ASNS mutation.