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

Genetic Diseases, Inborn Clinical Trial

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

Clinical Trial Summary

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

Clinical Trial 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. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT03587155
Study type Observational
Source First Hospital of Jilin University
Contact Bo Chen, M.D., Ph.D.
Phone +86 15844023910
Email bchen223@jlu.edu.cn
Status Recruiting
Phase
Start date October 28, 2017
Completion date December 2020
View Details
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