Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34

Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34

BackgroundThe NONO gene is located on chromosome Xq13.1 and encodes a nuclear protein involved in RNA synthesis, transcriptional regulation, and DNA repair. Hemizygous variants in NONO have been reported to cause mental retardation, X-linked, syndromic 34 (MRXS34) in males. Due to the scarcity of cl...

Full description

Bibliographic Details
Main Authors: Hairui Sun, Lu Han, Xiaoshan Zhang, Xiaoyan Hao, Xiaoxue Zhou, Ruiqing Pan, Hongjia Zhang, Yihua He
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-11-01
Series:Frontiers in Genetics
Subjects:
congenital heart disease
hypoplastic left heart syndrome
NONO (p54nrb)
mini-gene splicing assay
intronic variant
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.593688/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2020.593688/full

Similar Items