Article
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.
Human mutation - 1 Aug 2013
Darbro Benjamin W, Mahajan Vinit B, Gakhar Lokesh, Skeie Jessica M, Campbell Elizabeth, Wu Shu, Bing Xinyu, Millen Kathleen J, Dobyns William B, Kessler John A, Jalali Ali, Cremer James, Segre Alberto, Manak J Robert, Aldinger Kimerbly A, Suzuki Satoshi, Natsume Nagato, Ono Maya, Hai Huynh Dai, Viet Le Thi, Loddo Sara, Valente Enza M, Bernardini Laura, Ghonge Nitin, Ferguson Polly J, Bassuk Alexander G
Abstract excerpt
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...
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