Mutations in RNA Methyltransferase Gene NSUN5 Confer High Risk of Outflow Tract Malformation

Mutations in RNA Methyltransferase Gene NSUN5 Confer High Risk of Outflow Tract Malformation

NSUN5, encoding a cytosine-5 RNA methyltransferase and located in the 7q11.23 locus, is a candidate gene for tetralogy of Fallot (TOF). Deletion of the 7q11.23 locus in humans is linked to cardiac outflow tract (OFT) disorders including TOF. We identified four potential pathogenic mutations in the c...

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Bibliographic Details
Main Authors: Yifeng Wang, Tao Jiang, Jiani Xu, Yayun Gu, Yan Zhou, Yuan Lin, Yifei Wu, Wei Li, Cheng Wang, Bin Shen, Xuming Mo, Xiaowei Wang, Bin Zhou, Chenyue Ding, Zhibin Hu
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-04-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
NSUN5
tetralogy of Fallot
5-methylcytosine
outflow tract (OFT)
heart development
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2021.623394/full

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https://www.frontiersin.org/articles/10.3389/fcell.2021.623394/full

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