Functional investigation of a novel ANKRD11 frameshift variant identified in a Chinese family with KBG syndrome

Functional investigation of a novel ANKRD11 frameshift variant identified in a Chinese family with KBG syndrome

KBG syndrome is a rare autosomal dominant condition characterized by multisystem developmental disorder, primarily caused by loss-of-function variants in ankyrin repeat domain-containing protein 11 (ANKRD11). Approximately 80 % of ANKRD11 variants associated with KBG syndrome, are frameshift and non...

Full description

Bibliographic Details
Main Authors: Shuoshuo Wei, Yanying Li, Wanling Yang, Shuxiong Chen, Fupeng Liu, Mei Zhang, Bo Ban, Dongye He
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Heliyon
Subjects:
KBG syndrome
ANKRD11 gene
Whole-exome sequencing
Frameshift variant
Truncated transcript
Functional assays
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024041136

Internet

http://www.sciencedirect.com/science/article/pii/S2405844024041136

Similar Items