Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.

Nesreen K Al-JezawiAisha M Al-ShamsiJehan SuleimanSalma Ben-SalemAnne JohnRanjit VijayanBassam R AliLihadh Al-Gazali

Published in: BMC medical genetics (2018)

The compound heterozygous variants identified in this study are the most likely cause of CH in the affected child. The study further confirms MPDZ as a gene underlying some CH cases.

Keyphrases

copy number
early onset
multiple sclerosis
mental health
gene expression
room temperature
subarachnoid hemorrhage
dna methylation
genome wide
brain injury
cerebrospinal fluid
small molecule
protein protein