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

Autor:	Enza Maria Valente, Jessica M. Skeie, Nitin Ghonge, Huynh Dai Hai, Kimerbly A. Aldinger, Lokesh Gakhar, Benjamin W. Darbro, Sara Loddo, Kathleen J. Millen, Polly J. Ferguson, Satoshi Suzuki, James F. Cremer, Vinit B. Mahajan, J. Robert Manak, Le Thi Viet, Alberto M. Segre, John A. Kessler, Ali Jalali, Nagato Natsume, William B. Dobyns, Alexander G. Bassuk, Shu Wu, Maya Ono, Elizabeth Campbell, Xinyu Bing, Laura Bernardini
Rok vydání:	2013
Předmět:	Biology medicine.disease_cause Article Extracellular matrix Pathogenesis 03 medical and health sciences 0302 clinical medicine Dandy walker Genetics medicine Humans Exome Gene Genetics (clinical) 030304 developmental biology Encephalocele 0303 health sciences Mutation Cephalocele Membrane Glycoproteins Sequence Analysis DNA Molecular biology Extracellular Matrix Protein Structure Tertiary Laminin Dandy-Walker Syndrome 030217 neurology & neurosurgery Dandy-Walker malformation
Zdroj:	Human Mutation
ISSN:	1098-1004
Popis:	We performed whole-exome sequencing of a family with autosomal dominant Dandy-Walker malformation and occipital cephaloceles (ADDWOC) and detected a mutation in the extracellular matrix 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 the NID1-LAMC1 complex demonstrated that each mutation disrupts the interaction. These findings implicate the extracellular matrix in the pathogenesis of Dandy-Walker spectrum disorders.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2627a8f345835b75e35833cb942578c https://pubmed.ncbi.nlm.nih.gov/23674478 Zobrazit plný text záznamu Plný text