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

ABSTRACT:

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 Chinese).

Methods

Here, we analyzed the clinical data and genetic test results of a Chinese patient with Jansen-de Vries syndrome admitted in our hospital in May 2019.

Results

We report a 9-month-old boy carrying a pathogenic variant (c.1254_1255del, p.(V419Qfs*14)) in PPM1D exon 5, which can account for his phenotype. Most of his clinical features overlap with the rep

SUBMITTER: Li Z 

PROVIDER: S-EPMC7057113 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature