Mutations in γ adducin are associated with inherited cerebral palsy.

ABSTRACT:

Objective

Cerebral palsy is estimated to affect nearly 1 in 500 children, and although prenatal and perinatal contributors have been well characterized, at least 20% of cases are believed to be inherited. Previous studies have identified mutations in the actin-capping protein KANK1 and the adaptor protein-4 complex in forms of inherited cerebral palsy, suggesting a role for components of the dynamic cytoskeleton in the genesis of the disease.

Methods

We studied a multiplex consanguineous Jordanian family by homozygosity mapping and exome sequencing, then used patient-derived fibroblasts to examine functional consequences of the mutation we identified in vitro. We subsequently studied the effects of adducin loss of function in Drosophila.

Results

We identified a homozy

SUBMITTER: Kruer MC 

PROVIDER: S-EPMC3952628 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature