Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.

ABSTRACT: Congenital or infantile hydrocephalus is caused by genetic and non-genetic factors and is highly heterogeneous in etiology. In recent studies, a limited number of genetic causes of hydrocephalus have been identified. To date, recessive mutations in the CCDC88C gene have been identified as a cause of non-syndromic congenital hydrocephalus in three reported families. Here, we report the fourth known family with two affected individuals with congenital hydrocephalus due to a homozygous mutation in the CCDC88C gene identified by whole exome sequencing. Our two newly described children, as well as the previously published ones, all shared several features including severe infantile-onset hydrocephalus, mild to severe intellectual delay, varying degrees of motor delay, and infantile onset seizur

SUBMITTER: Ruggeri G 

PROVIDER: S-EPMC5871351 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature