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Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles.

TitleMutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles.
Publication TypeJournal Article
Year of Publication2013
AuthorsDarbro, 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, J Manak 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., and Bassuk Alexander G.
JournalHum Mutat
Date Published2013 May 14
Abstract

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 Dandy-Walker spectrum disorders.

Alternate JournalHum. Mutat.