Literature DB >> 23674478

Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.

Benjamin W Darbro1, Vinit B Mahajan, Lokesh Gakhar, Jessica M Skeie, Elizabeth Campbell, Shu Wu, Xinyu Bing, Kathleen J Millen, William B Dobyns, John A Kessler, Ali Jalali, James Cremer, Alberto Segre, J Robert Manak, Kimerbly A Aldinger, Satoshi Suzuki, Nagato Natsume, Maya Ono, Huynh Dai Hai, Le Thi Viet, Sara Loddo, Enza M Valente, Laura Bernardini, Nitin Ghonge, Polly J Ferguson, Alexander G Bassuk.   

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.
© 2013 WILEY PERIODICALS, INC.

Entities:  

Keywords:  Dandy-Walker; LAMC1; NID1; exome; extracellular matrix

Mesh：

Substances：

Year:  2013        PMID： 23674478      PMCID： PMC3714376          DOI： 10.1002/humu.22351

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


  25 in total

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