Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.

ABSTRACT: Congenital hydrocephalus is considered as either acquired due to haemorrhage, infection or neoplasia or as of developmental nature and is divided into two subgroups, communicating and obstructive. Congenital hydrocephalus is either syndromic or non-syndromic, and in the latter no cause is found in more than half of the patients. In patients with isolated hydrocephalus, L1CAM mutations represent the most common aetiology. More recently, a founder mutation has also been reported in the MPDZ gene in foetuses presenting massive hydrocephalus, but the neuropathology remains unknown. We describe here three novel homozygous null mutations in the MPDZ gene in foetuses whose post-mortem examination has revealed a homogeneous phenotype characterized by multiple ependymal malformations along the aque

SUBMITTER: Saugier-Veber P 

PROVIDER: S-EPMC5412059 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature