title: 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.
authors.affiliation: Department of Pediatrics, The University of Iowa, Iowa City, Iowa52242, USA.
authors.forename: Benjamin W
authors.initials: BW
authors.lastname: Darbro
authors.forename: Vinit B
authors.initials: VB
authors.lastname: Mahajan
authors.forename: Lokesh
authors.initials: L
authors.lastname: Gakhar
authors.forename: Jessica M
authors.initials: JM
authors.lastname: Skeie
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Campbell
authors.forename: Shu
authors.initials: S
authors.lastname: Wu
authors.forename: Xinyu
authors.initials: X
authors.lastname: Bing
authors.forename: Kathleen J
authors.initials: KJ
authors.lastname: Millen
authors.forename: William B
authors.initials: WB
authors.lastname: Dobyns
authors.forename: John A
authors.initials: JA
authors.lastname: Kessler
authors.forename: Ali
authors.initials: A
authors.lastname: Jalali
authors.forename: James
authors.initials: J
authors.lastname: Cremer
authors.forename: Alberto
authors.initials: A
authors.lastname: Segre
authors.forename: J Robert
authors.initials: JR
authors.lastname: Manak
authors.forename: Kimerbly A
authors.initials: KA
authors.lastname: Aldinger
authors.forename: Satoshi
authors.initials: S
authors.lastname: Suzuki
authors.forename: Nagato
authors.initials: N
authors.lastname: Natsume
authors.forename: Maya
authors.initials: M
authors.lastname: Ono
authors.forename: Huynh Dai
authors.initials: HD
authors.lastname: Hai
authors.forename: Le Thi
authors.initials: le T
authors.lastname: Viet
authors.forename: Sara
authors.initials: S
authors.lastname: Loddo
authors.forename: Enza M
authors.initials: EM
authors.lastname: Valente
authors.forename: Laura
authors.initials: L
authors.lastname: Bernardini
authors.forename: Nitin
authors.initials: N
authors.lastname: Ghonge
authors.forename: Polly J
authors.initials: PJ
authors.lastname: Ferguson
authors.forename: Alexander G
authors.initials: AG
authors.lastname: Bassuk
mesh_terms: D003616:Dandy-Walker Syndrome / Q000235:genetics*; D004677:Encephalocele / Q000235:genetics*; D059472:Exome; D005109:Extracellular Matrix / Q000235:genetics; D006801:Humans; D007797:Laminin / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D008562:Membrane Glycoproteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D017434:Protein Structure, Tertiary; D017422:Sequence Analysis, DNA
chemical_list: D007797:Laminin; D008562:Membrane Glycoproteins; C089141:laminin gamma 1; C029967:nidogen
keywords: Dandy-Walker; LAMC1; NID1; exome; extracellular matrix