Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy–Walker Malformation and Occipital Cephaloceles. Issue 8 (28th May 2013) - Darbro, Benjamin W.
Abstract Whole‐exome sequencing of a family with Dandy‐Walker malformation and occipital cephaloceles revealed a mutation in the extracellular matrix protein encoding gene NID1. In a second family, network analysis identified a mutation in LAMC1, which encodes a NID1 binding partner. The NID1 mutation eliminates the LAMC1‐binding domain, and while there are no reports of the LAMC1 EGF‐like‐6 domain interacting with NID1, a destabilizing mutation could lead to loss of the well‐documented binding of neighboring EGF‐like‐7‐8‐9 stretch to the NID1 β‐propeller domain.