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Article

Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen-de Vries syndrome.

Molecular genetics & genomic medicine - 1 Mar 2020

Li Zhuoguang, Du Caiqi, Zhang Cai, Zhang Mini, Ying Yanqin, Liang Yan, Luo Xiaoping

Abstract excerpt

BACKGROUND: Jansen-de Vries syndrome is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the last and penultimate exons of the PPM1D gene. It is characterized by delayed psychomotor development, intellectual disability with speech delay, behavioral abnormalities, and dysmorphic features. Up to date, only 17 affected patients have been reported worldwide (no report in...

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PMID: 31916397
DOI: 10.1002/mgg3.1120
PMCID: PMC7057113

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