Benutzer: Gast  Login
Titel:

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Dokumenttyp:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Autor(en):
Weng, Patricia L; Majmundar, Amar J; Khan, Kamal; Lim, Tze Y; Shril, Shirlee; Jin, Gina; Musgrove, John; Wang, Minxian; Ahram, Dina F; Aggarwal, Vimla S; Bier, Louise E; Heinzen, Erin L; Onuchic-Whitford, Ana C; Mann, Nina; Buerger, Florian; Schneider, Ronen; Deutsch, Konstantin; Kitzler, Thomas M; Klämbt, Verena; Kolb, Amy; Mao, Youying; Moufawad El Achkar, Christelle; Mitrotti, Adele; Martino, Jeremiah; Beck, Bodo B; Altmüller, Janine; Benz, Marcus R; Yano, Shoji; Mikati, Mohamad A; Gunduz, Ta...     »
Abstract:
Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney disease. Monogenic forms of pediatric SRNS are predominantly caused by recessive mutations, while the contribution of de novo variants (DNVs) to this trait is poorly understood. Using exome sequencing (ES) in a proband with FSGS/SRNS, developmental delay, and epilepsy, we discovered a nonsense DNV in TRIM8, which encodes the E3 ubiquitin lig...     »
Zeitschriftentitel:
Am J Hum Genet
Jahr:
2021
Band / Volume:
108
Heft / Issue:
2
Seitenangaben Beitrag:
357-367
Volltext / DOI:
doi:10.1016/j.ajhg.2021.01.008
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33508234
Print-ISSN:
0002-9297
TUM Einrichtung:
1067; Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik
 BibTeX