A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency

A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency

Abstract Background Asparagine synthetase deficiency (ASNSD) is a rare pediatric congenital disorder that clinically manifests into severe progressive microcephaly, global developmental delay, spastic quadriplegia, and refractory seizures. ASNSD is caused by inheritable autosomal recessive mutations...

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Bibliographic Details
Main Authors: Chun Wang, Guiyuan He, Yusong Ge, Runjie Li, Zhenguo Li, Yongzhong Lin
Format: Article
Language:English
Published: Wiley 2020-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ASNS
asparagine synthetase deficiency
bioinformatics analyses
novel mutation
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1235

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