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-GazaliPublished 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.