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 & 6 others Sara Loddo, Enza M. Valente, Laura Bernardini, Nitin Ghonge, Polly J. Ferguson, Alexander G. Bassuk

Research output: Contribution to journalArticle

21 Citations (Scopus)

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 languageEnglish
Pages (from-to)1075-1079
Number of pages5
JournalHuman Mutation
Volume34
Issue number8
DOIs
Publication statusPublished - Aug 2013

Fingerprint

Dandy-Walker Syndrome
Encephalocele
Extracellular Matrix
Mutation
Genes
Exome
Protein Interaction Maps
Extracellular Matrix Proteins

Keywords

  • Dandy-Walker
  • Exome
  • Extracellular matrix
  • LAMC1
  • NID1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Darbro, B. W., Mahajan, V. B., Gakhar, L., Skeie, J. M., Campbell, E., Wu, S., ... 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

Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant dandy-walker malformation and occipital cephaloceles. / Darbro, Benjamin W.; Mahajan, Vinit B.; Gakhar, Lokesh; Skeie, Jessica M.; Campbell, Elizabeth; Wu, Shu; Bing, Xinyu; Millen, Kathleen J.; Dobyns, William B.; Kessler, John A.; Jalali, Ali; Cremer, James; Segre, Alberto; Manak, J. Robert; Aldinger, Kimerbly A.; Suzuki, Satoshi; Natsume, Nagato; Ono, Maya; Hai, Huynh Dai; Viet, Le Thi; Loddo, Sara; Valente, Enza M.; Bernardini, Laura; Ghonge, Nitin; Ferguson, Polly J.; Bassuk, Alexander G.

In: Human Mutation, Vol. 34, No. 8, 08.2013, p. 1075-1079.

Research output: Contribution to journalArticle

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
Darbro, Benjamin W. ; Mahajan, Vinit B. ; Gakhar, Lokesh ; Skeie, Jessica M. ; Campbell, Elizabeth ; Wu, Shu ; Bing, Xinyu ; Millen, Kathleen J. ; Dobyns, William B. ; Kessler, John A. ; Jalali, Ali ; Cremer, James ; Segre, Alberto ; Manak, J. Robert ; Aldinger, Kimerbly A. ; Suzuki, Satoshi ; Natsume, Nagato ; Ono, Maya ; Hai, Huynh Dai ; Viet, Le Thi ; Loddo, Sara ; Valente, Enza M. ; Bernardini, Laura ; Ghonge, Nitin ; Ferguson, Polly J. ; Bassuk, Alexander G. / Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant dandy-walker malformation and occipital cephaloceles. In: Human Mutation. 2013 ; Vol. 34, No. 8. pp. 1075-1079.
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AU - Campbell, Elizabeth

AU - Wu, Shu

AU - Bing, Xinyu

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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.

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