Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy–Walker Malformation and Occipital Cephaloceles. Issue 8 (28th May 2013)

• Record Type: Journal Article
• Authors: 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.
• Is Part Of: Human mutation. Volume 34:Issue 8(2013:Aug.)
• Page Start: 1075
• Page End: 1079
• Publication Date: 2013-05-28
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22351
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22351-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Whole‐exome sequencing of a family with Dandy‐Walker malformation and occipital cephaloceles revealed a mutation in the extracellular matrix protein encoding gene <italic>NID1</italic>. In a second family, network analysis identified a mutation in <italic>LAMC1</italic>, which encodes a NID1 binding partner. The NID1 mutation eliminates the LAMC1‐binding domain, and while there are no reports of the LAMC1 EGF‐like‐6 domain interacting with NID1, a destabilizing mutation could lead to loss of the well‐documented binding of neighboring EGF‐like‐7‐8‐9 stretch to the NID1 β‐propeller domain. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg2718nfbr" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>