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Titel:

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

Dokumenttyp:
Article; Journal Article
Autor(en):
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...     »
Zeitschriftentitel:
Eur J Hum Genet
Jahr:
2019
Band / Volume:
27
Heft / Issue:
5
Seitenangaben Beitrag:
747-759
Volltext / DOI:
doi:10.1038/s41431-018-0331-z
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/30664714
Print-ISSN:
1018-4813
TUM Einrichtung:
Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik
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