A missense variant in Exon 9 of the ASNS gene causes splicing abnormality in an Infant with asparagine synthetase deficiency

Asparagine Synthetase Deficiency (ASNSD) is a rare neurodevelopmental disorder primarily caused by pathogenic homozygous or compound heterozygous variants in the ASNS gene. Clinical manifestations typically include microcephaly, severe psychomotor developmental delay, progressive encephalopathy, epi...

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Autors principals:	Weihong Zhang, Fengliu Chen, Zuo Wang, Han Ding, Yu Zhang, Lingkong Zeng
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2026-05-01
Col·lecció:	Frontiers in Genetics
Matèries:	ASNS asparagine synthetase deficiency epilepsy hypotonia microcephaly whole-exome sequencing
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fgene.2026.1799796/full
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