Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant dandy-walker malformation and occipital cephaloceles

Benjamin W. Darbro; Vinit B. Mahajan; Lokesh Gakhar; Jessica M. Skeie; Elizabeth Campbell; Shu Wu; Xinyu Bing; Kathleen J. Millen; William B. Dobyns; John A. Kessler; Ali Jalali; James Cremer; Alberto Segre; J. Robert Manak; Kimerbly A. Aldinger; Satoshi Suzuki; Nagato Natsume; Maya Ono; Huynh Dai Hai; Le Thi Viet; Sara Loddo; Enza M. Valente; Laura Bernardini; Nitin Ghonge; Polly J. Ferguson; Alexander G. Bassuk

doi:10.1002/humu.22351

Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant dandy-walker malformation and occipital cephaloceles

Benjamin W. Darbro
, Vinit B. Mahajan
, Lokesh Gakhar
, Jessica M. Skeie
, Elizabeth Campbell
, Shu Wu
, Xinyu Bing
, Kathleen J. Millen
, William B. Dobyns
, John A. Kessler
, Ali Jalali
, James Cremer
, Alberto Segre
, J. Robert Manak
, Kimerbly A. Aldinger
, Satoshi Suzuki
, Nagato Natsume
, Maya Ono
, Huynh Dai Hai
, Le Thi Viet

Sara Loddo, Enza M. Valente, Laura Bernardini, Nitin Ghonge, Polly J. Ferguson, Alexander G. Bassuk

Research output: Contribution to journal › Article › peer-review

36 Scopus citations

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.

Original language	English (US)
Pages (from-to)	1075-1079
Number of pages	5
Journal	Human mutation
Volume	34
Issue number	8
DOIs	https://doi.org/10.1002/humu.22351
State	Published - Aug 2013
Externally published	Yes

Keywords

Dandy-Walker
Exome
Extracellular matrix
LAMC1
NID1

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10.1002/humu.22351

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Darbro, B. W., Mahajan, V. B., Gakhar, L., Skeie, J. M., Campbell, E., Wu, S., Bing, X., Millen, K. J., Dobyns, W. B., Kessler, J. A., Jalali, A., Cremer, J., Segre, A., Manak, J. R., Aldinger, K. A., Suzuki, S., Natsume, N., Ono, M., Hai, H. D., ... Bassuk, A. G. (2013). Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant dandy-walker malformation and occipital cephaloceles. Human mutation, 34(8), 1075-1079. https://doi.org/10.1002/humu.22351

Darbro, BW, Mahajan, VB, Gakhar, L, Skeie, JM, Campbell, E, Wu, S, Bing, X, Millen, KJ, Dobyns, WB, Kessler, JA, Jalali, A, Cremer, J, Segre, A, Manak, JR, Aldinger, KA, Suzuki, S, Natsume, N, Ono, M, Hai, HD, Viet, LT, Loddo, S, Valente, EM, Bernardini, L, Ghonge, N, Ferguson, PJ & Bassuk, AG 2013, 'Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant dandy-walker malformation and occipital cephaloceles', Human mutation, vol. 34, no. 8, pp. 1075-1079. https://doi.org/10.1002/humu.22351

@article{d919232d63c941e5bde2d99c95a25184,

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.",

keywords = "Dandy-Walker, Exome, Extracellular matrix, LAMC1, NID1",

author = "Darbro, \{Benjamin W.\} and Mahajan, \{Vinit B.\} and Lokesh Gakhar and Skeie, \{Jessica M.\} and Elizabeth Campbell and Shu Wu and Xinyu Bing and Millen, \{Kathleen J.\} and Dobyns, \{William B.\} and Kessler, \{John A.\} and Ali Jalali and James Cremer and Alberto Segre and Manak, \{J. Robert\} and Aldinger, \{Kimerbly A.\} and Satoshi Suzuki and Nagato Natsume and Maya Ono and Hai, \{Huynh Dai\} and Viet, \{Le Thi\} and Sara Loddo and Valente, \{Enza M.\} and Laura Bernardini and Nitin Ghonge and Ferguson, \{Polly J.\} and Bassuk, \{Alexander G.\}",

year = "2013",

month = aug,

doi = "10.1002/humu.22351",

language = "English (US)",

volume = "34",

pages = "1075--1079",

journal = "Human mutation",

issn = "1059-7794",

publisher = "John Wiley and Sons Inc.",

number = "8",

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TY - JOUR

T1 - Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant dandy-walker malformation and occipital cephaloceles

AU - Darbro, Benjamin W.

AU - Mahajan, Vinit B.

AU - Gakhar, Lokesh

AU - Skeie, Jessica M.

AU - Campbell, Elizabeth

AU - Wu, Shu

AU - Bing, Xinyu

AU - Millen, Kathleen J.

AU - Dobyns, William B.

AU - Kessler, John A.

AU - Jalali, Ali

AU - Cremer, James

AU - Segre, Alberto

AU - Manak, J. Robert

AU - Aldinger, Kimerbly A.

AU - Suzuki, Satoshi

AU - Natsume, Nagato

AU - Ono, Maya

AU - Hai, Huynh Dai

AU - Viet, Le Thi

AU - Loddo, Sara

AU - Valente, Enza M.

AU - Bernardini, Laura

AU - Ghonge, Nitin

AU - Ferguson, Polly J.

AU - Bassuk, Alexander G.

PY - 2013/8

Y1 - 2013/8

N2 - 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.

AB - 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.

KW - Dandy-Walker

KW - Exome

KW - Extracellular matrix

KW - LAMC1

KW - NID1

UR - https://www.scopus.com/pages/publications/84880415764

UR - https://www.scopus.com/pages/publications/84880415764#tab=citedBy

U2 - 10.1002/humu.22351

DO - 10.1002/humu.22351

M3 - Article

C2 - 23674478

AN - SCOPUS:84880415764

SN - 1059-7794

VL - 34

SP - 1075

EP - 1079

JO - Human mutation

JF - Human mutation

IS - 8

ER -

Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant dandy-walker malformation and occipital cephaloceles

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