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Title:

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.

Document type:
Article; Journal Article
Author(s):
Zweier, Markus; Begemann, Anaïs; McWalter, Kirsty; Cho, Megan T; Abela, Lucia; Banka, Siddharth; Behring, Bettina; Berger, Andrea; Brown, Chester W; Carneiro, Maryline; Chen, Jiani; Cooper, Gregory M; Finnila, Candice R; Guillen Sacoto, Maria J; Henderson, Alex; Hüffmeier, Ulrike; Joset, Pascal; Kerr, Bronwyn; Lesca, Gaetan; Leszinski, Gloria S; McDermott, John Henry; Meltzer, Meira R; Monaghan, Kristin G; Mostafavi, Roya; Ounap, Katrin; Plecko, Barbara; Powis, Zöe; Purcarin, Gabriela; Reimand,...     »
Abstract:
CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual disability and autism because of its important role linking FMRP-dependent transcription regulation and actin polymerization via the WAVE regulatory complex (WRC). Recently, de novo variants affecting the amino acid p.Arg87 of CYFIP2 were reported in four individuals with epileptic encephalopathy. We here report 12 independent patients harbo...     »
Journal title abbreviation:
Eur J Hum Genet
Year:
2019
Journal volume:
27
Journal issue:
5
Pages contribution:
747-759
Fulltext / DOI:
doi:10.1038/s41431-018-0331-z
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/30664714
Print-ISSN:
1018-4813
TUM Institution:
Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik
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