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Article

A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype.

BioMed research international - 1 Jan 2021

Yan Lulu, Shen Ru, Cao Zongfu, Han Chunxiao, Zhang Yuxin, Liu Yingwen, Yang Xiangchun, Xie Min, Li Haibo

Abstract excerpt

PPP2R5D-related neurodevelopmental disorder, which is mainly caused by de novo missense variants in the PPP2R5D gene, is a rare autosomal dominant genetic disorder with about 100 patients and a total of thirteen pathogenic variants known to exist globally so far. Here, we present a 24-month-old Chinese boy with developmental delay and other common clinical characteristics of PPP2R5D-related neurodevelopmental...

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Identifiers

PMID: 33628804
DOI: 10.1155/2021/6661860
PMCID: PMC7895568

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