Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis

Frontiers in Pediatrics

Pediatrics

Huiqing Ding¹  Linyan Zhu²  Yixi Sun³  Pengzhen Jin³  Minyue Dong³  Yuqing Xu³ 

[1] Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Ningbo University, Ningbo, China;Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Ningbo University, Ningbo, China;Women’s Hospital, School of Medicine, Zhejiang University, Hangzhou, China;Women’s Hospital, School of Medicine, Zhejiang University, Hangzhou, China;Key Laboratory of Reproductive Genetics, Ministry of Education (Zhejiang University), Hangzhou, China;

关键词: ASNS;    prenatal diagnosis;    asparagine synthetase deficiency;    whole-exome sequencing;    case report;   

DOI  :  10.3389/fped.2023.1273789

 received in 2023-08-07, accepted in 2023-09-29,  发布年份 2023

来源: Frontiers

【 摘 要 】

Asparagine synthetase deficiency (ASNSD) is a rare congenital disorder characterized by severe progressive microcephaly, global developmental delay, spastic quadriplegia, and refractory seizures. ASNSD is caused by variations of the ASNS gene. The present study showed a Chinese family with a fetus suffering microcephaly. Whole-exome sequencing and Sanger sequencing were used to identify the disease-associated genetic variants. Compound heterozygous variants c.97C>T p. (R33C) and c.1031-2_1033del were identified in the ASNS gene and the variants were inherited from the parents. The mutation site c.97C>T was highly conserved across a wide range of species and predicted to alter the local electrostatic potential. The variant c.1031-2_1033del was classified pathogenic. However, there is no case report of prenatal diagnosis of ASNSD. This is the first description of fetal compound mutations in the ASNS gene leading to ASNSD, which expanded the spectrum of ASNSD.

【 授权许可】

Unknown   
© 2023 Zhu, Sun, Xu, Jin, Ding and Dong.