NCT03587155

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

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 10 (estimated)
• Sponsor: The First Hospital of Jilin University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

Summary

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

Detailed 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.

Conditions

• Asparagine Synthetase Deficiency
• Genetic Diseases, Inborn

Timeline

• Start date: 2017-10-28
• Primary completion: 2018-12-01
• Completion: 2020-12-01
• First posted: 2018-07-16
• Last updated: 2018-07-16

Locations

1 site across 1 country: China