Dataset Information

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

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.

SUBMITTER: Darbro BW

PROVIDER: S-EPMC3714376 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature

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

Darbro Benjamin W BW Mahajan Vinit B VB Gakhar Lokesh L Skeie Jessica M JM Campbell Elizabeth E Wu Shu S Bing Xinyu X Millen Kathleen J KJ Dobyns William B WB Kessler John A JA Jalali Ali A Cremer James J Segre Alberto A Manak J Robert JR Aldinger Kimerbly A KA Suzuki Satoshi S Natsume Nagato N Ono Maya M Hai Huynh Dai HD Viet Le Thi le T Loddo Sara S Valente Enza M EM Bernardini Laura L Ghonge Nitin N Ferguson Polly J PJ Bassuk Alexander G AG

Human mutation 20130528 8

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 Da ...[more]

PMID: 23674478

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Dataset Information

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

Publications

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

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