Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

Hydrocephalus is an abnormal expansion of brain cavities (ventricles) resulting from the accumulation of cerebrospinal fluid. It can cause severe motor and intellectual deficiency. Some cases result from an inherited, genetic defect, and a mutation of the CCDC88C gene has been associated with hydrocephalus in one family.

We report two families with multiple cases of hydrocephalus where we describe two novel mutations of this gene. One mutation affected only a small, terminal portion of the gene product. Our study confirms the causal association of CCDC88C with hydrocephalus, and underscores the important role of its terminal portion for normal gene function. (By Drielsma Anaïs, http://jmg.bmj.com/content/49/11/708 )