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