Ontology highlight
ABSTRACT:
SUBMITTER: Darbro BW
PROVIDER: S-EPMC3714376 | biostudies-literature | 2013 Aug
REPOSITORIES: biostudies-literature
Human mutation 20130528 8
We performed whole-exome sequencing of a family with autosomal dominant Dandy-Walker malformation and occipital cephaloceles and detected a mutation in the extracellular matrix (ECM) protein-encoding gene NID1. In a second family, protein interaction network analysis identified a mutation in LAMC1, which encodes a NID1-binding partner. Structural modeling of the NID1-LAMC1 complex demonstrated that each mutation disrupts the interaction. These findings implicate the ECM in the pathogenesis of Da ...[more]