Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles

被引：39

作者：

Darbro, Benjamin W. ^{[1
]}

Mahajan, Vinit B. ^{[2
]}

Gakhar, Lokesh ^{[3
]}

Skeie, Jessica M. ^{[2
]}

Campbell, Elizabeth ^{[1
]}

Wu, Shu ^{[1
]}

Bing, Xinyu ^{[1
]}

Millen, Kathleen J. ^{[4
]}

Dobyns, William B. ^{[4
]}

Kessler, John A. ^{[5
]}

Jalali, Ali ^{[5
]}

Cremer, James ^{[6
]}

Segre, Alberto ^{[6
]}

Manak, J. Robert ^{[1
,7
]}

Aldinger, Kimerbly A. ^{[4
]}

Suzuki, Satoshi ^{[8
]}

Natsume, Nagato ^{[8
]}

Ono, Maya ^{[8
]}

Huynh Dai Hai ^{[9
]}

Le Thi Viet ^{[9
]}

Loddo, Sara ^{[10
]}

Valente, Enza M. ^{[10
,11
,12
,13
]}

Bernardini, Laura ^{[10
]}

Ghonge, Nitin

Ferguson, Polly J. ^{[1
]}

Bassuk, Alexander G. ^{[1
]}

机构：

[1] Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA

[2] Univ Iowa, Dept Ophthalmol, Iowa City, IA 52242 USA

[3] Univ Iowa, Xray Crystallog Facil, Iowa City, IA 52242 USA

[4] Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA

[5] Northwestern Univ, Dept Neurol, Evanston, IL 60208 USA

[6] Univ Iowa, Dept Comp Sci, Iowa City, IA 52242 USA

[7] Univ Iowa, Dept Biol, Iowa City, IA 52242 USA

[8] Aichi Gakuin Univ Hosp, Aichi, Japan

[9] Odonto Maxillo Facial Hosp, Ho Chi Minh City, Vietnam

[10] IRCCS Casa Sollievo Sofferenza, Paris, France

[11] CSS Mendel Lab San Giovanni Rotondo, San Giovanni Rotondo, Italy

[12] Univ Roma La Sapienza, Dept Expt Med, I-00185 Rome, Italy

[13] Univ Salerno, Dept Med & Surg, I-84100 Salerno, Italy

来源：

HUMAN MUTATION | 2013年 / 34卷 / 08期

基金：

欧洲研究理事会;

关键词：

Dandy-Walker; exome; NID1; LAMC1; extracellular matrix; COLLAGEN XVIII; NIDOGEN; LAMININ; DEFECTS; DIFFERENTIATION; FOXC1; MICE;

D O I：

10.1002/humu.22351

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1075 / 1079

页数：5

共 25 条

[1]

Ackley BD, 2003, J NEUROSCI, V23, P3577

[2] FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation [J].