Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies

Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies

The SMPD4 gene encodes sphingomyelin phosphodiesterase 4, which preferentially hydrolyzes sphingomyelin over other phospholipids. The biallelic loss-of-function variants of SMPD4 have been identified in a group of children with neurodevelopmental disorder with microcephaly, arthrogryposis, and struc...

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Bibliographic Details
Main Authors: Weigang Ji, Xiangtian Kong, Honggang Yin, Jian Xu, Xueqian Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Genetics
Subjects:
SMPD4
neurodevelopmental disorder (NDD)
null variants
microcephaly
structural brain anomalies
arthrogryposis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.872264/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.872264/full

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