Journal article
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles
Human mutation, Vol.34(8), pp.1075-1079
08/2013
DOI: 10.1002/humu.22351
PMCID: PMC3714376
PMID: 23674478
Abstract
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.
Details
- Title: Subtitle
- Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles
- Creators
- Benjamin W Darbro - University of Iowa, Stead Family Department of PediatricsVinit B Mahajan - University of Iowa, Stead Family Department of PediatricsLokesh Gakhar - University of Iowa, Biochemistry and Molecular BiologyJessica M Skeie - University of Iowa, Ophthalmology and Visual SciencesElizabeth Campbell - University of IowaShu WuXinyu BingKathleen J MillenWilliam B DobynsJohn A KesslerAli JalaliJames CremerAlberto SegreJ. Robert ManakKimerbly A AldingerSatoshi SuzukiNagato NatsumeMaya OnoHuynh Dai HaiLe Thi VietSara LoddoEnza M ValenteLaura BernardiniNitin GhongePolly J FergusonAlexander G Bassuk
- Resource Type
- Journal article
- Publication Details
- Human mutation, Vol.34(8), pp.1075-1079
- DOI
- 10.1002/humu.22351
- PMID
- 23674478
- PMCID
- PMC3714376
- NLM abbreviation
- Hum Mutat
- ISSN
- 1059-7794
- eISSN
- 1098-1004
- Grant note
- R01 NS064159 || NS / National Institute of Neurological Disorders and Stroke : NINDS
- Language
- English
- Date published
- 08/2013
- Academic Unit
- Neurology; Medical Genetics and Genomics; Biology; Craniofacial Anomalies Research Center; Nursing; Rheumatology, Allergy, and Immunology; Biochemistry and Molecular Biology; Critical Care; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Computer Science; Neurology (Pediatrics); Medicine Administration; Internal Medicine; Ophthalmology and Visual Sciences
- Record Identifier
- 9984002341902771
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