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Background  Congenital hydrocephalus (CH) results from the accumulation of excessive amounts of cerebrospinal fluid (CSF) in the brain, often leading to severe neurological impairments. However, the adverse effects of CH can be reduced if the condition is detected and treated early. Earlier reports demonstrated that some CH cases are caused by mutations in  L1CAM  gene encoding the neural cell adhesion molecule L1. On the other hand, recent studies have implicated the multiple PDZ domain  (MPDZ)  gene in some severe forms of CH, inherited in an autosomal recessive pattern.    Methods  In this study, whole-exome and Sanger sequencing were performed on a 9 months old Emirati child clinically diagnosed by CH. In addition,  in silico , cellular, and molecular assays have been conducted to confirm pathogenicity of the identified variants and to establish disease mechanism.    Results  Whole exome sequencing revealed two compound heterozygous novel variants (c.394G > A and c.1744C > G) in the affected child within the  MPDZ  gene. Segregation analysis revealed that each of the parents is heterozygous for one of the two variants and therefore passed that variant to their child. The outcome of the  in silico  and bioinformatics analyses came in line with the experimental data, suggesting that the two variants are most likely disease causing.    Conclusions  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.

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