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Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles HUMAN MUTATION Darbro, B. W., Mahajan, V. B., Gakhar, L., Skeie, J. M., Campbell, E., Wu, S., Bing, X., Millen, K. J., Dobyns, W. B., Kessler, J. A., Jalali, A., Cremer, J., Segre, A., Manak, J. R., Aldinger, K. A., Suzuki, S., Natsume, N., Ono, M., Huynh Dai Hai, H. D., Le Thi Viet, L. T., Loddo, S., Valente, E. M., Bernardini, L., Ghonge, N., Ferguson, P. J., Bassuk, A. G. 2013; 34 (8): 1075-1079

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.

View details for DOI 10.1002/humu.22351

View details for Web of Science ID 000321759900005

View details for PubMedID 23674478

View details for PubMedCentralID PMC3714376