Asparagine Synthetase Deficiency, Genetic Diseases, Inborn
Conditions
Keywords
ASNS, single cell RNA seq, Neurodevelopmental Dysplasia,
Brief 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.
Interventions
None listed
Sponsors
National Natural Science Foundation of China
The First Hospital of Jilin University
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Effect of ASNS gene mutation on RNA expression in prefrontal cortex cells of brain tissue | 2018.06-2020.12 | Detect RNA expression in prefrontal cortex cells by single cell RNA sequencing. |
Countries
China
Contacts
Primary ContactBo Chen, M.D., Ph.D.
Backup ContactXinyu Hong, M.D., Ph.D.
Outcome results
None listed