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Titel:

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.

Dokumenttyp:
Journal Article; Article
Autor(en):
Martin, Sonja; Chamberlin, Adam; Shinde, Deepali N; Hempel, Maja; Strom, Tim M; Schreiber, Allison; Johannsen, Jessika; Ousager, Lilian Bomme; Larsen, Martin J; Hansen, Lars Kjaersgaard; Fatemi, Ali; Cohen, Julie S; Lemke, Johannes; Sørensen, Kristina P; Helbig, Katherine L; Lessel, Davor; Abou Jamra, Rami
Abstract:
Using trio whole-exome sequencing, we have identified de novo heterozygous pathogenic variants in GRIA4 in five unrelated individuals with intellectual disability and other symptoms. GRIA4 encodes an AMPA receptor subunit known as GluR4, which is found on excitatory glutamatergic synapses and is important for learning and memory. Four of the variants are located in the highly conserved SYTANLAAF motif in the transmembrane protein M3, and the fifth is in an extra-cellular domain. Molecular modeli...     »
Zeitschriftentitel:
Am J Hum Genet
Jahr:
2017
Band / Volume:
101
Heft / Issue:
6
Seitenangaben Beitrag:
1013-1020
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.ajhg.2017.11.004
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/29220673
Print-ISSN:
0002-9297
TUM Einrichtung:
Institut für Humangenetik
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