A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients

Clin Genet. 2020 May;97(5):789-790. doi: 10.1111/cge.13695. Epub 2020 Jan 7.

Authors

Danyu Song¹, Xiaona Fu¹, Lin Ge¹, Xingzhi Chang¹, Cuijie Wei¹, Jieyu Liu¹, Haipo Yang¹, Suqing Qu², Xinhua Bao¹, Tatsushi Toda³, Xiru Wu¹, Hui Xiong¹

Affiliations

¹ Department of Pediatrics, Peking University First Hospital, Beijing, China.
² Department of Pediatrics, The Sixth Medical Center of PLA General Hospital, Beijing, China.
³ Department of Neurology, University of Tokyo Graduate School of Medicine International Research Center for Medical Education, Tokyo, Japan.

PMID: 31909476
DOI: 10.1111/cge.13695

Abstract

The predicted synonymous mutation c.1251G>A of ISPD (NM_001101426.3) is a hot spot causing exon 9 skipping in five patients.

© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Exons / genetics
Female
Genetic Predisposition to Disease*
Humans
Male
Muscular Dystrophies / genetics*
Muscular Dystrophies / pathology
Mutation / genetics
Nucleotidyltransferases / genetics*
Protein Isoforms / genetics

Substances

Protein Isoforms
Nucleotidyltransferases
CRPPA protein, human