A novel SPINT2 missense mutation causes syndromic congenital sodium diarrhea

World J Pediatr. 2022 Dec;18(12):861-865. doi: 10.1007/s12519-022-00613-6. Epub 2022 Sep 19.

Authors

Xian-Xu Zhang¹, Xi Chen¹, Wei Zhou², Vasilis Caesar Mavratsas³, Yang-Yang Xiao¹, Xin-Rui Tan¹, Song-Jia Zheng¹, Xing-Xing Zhang⁴

Affiliations

¹ Department of Pediatrics, the Second Xiangya Hospital, Central South University, Changsha, 410011, China.
² Wuhan Primbio Medical Laboratory, Wuhan, 430075, China.
³ University of Texas Medical Branch School of Medicine, Galveston, TX, 77555, USA.
⁴ Department of Pediatrics, the Second Xiangya Hospital, Central South University, Changsha, 410011, China. zhangxingxing@csu.edu.cn.

PMID: 36123503
DOI: 10.1007/s12519-022-00613-6

No abstract available

Publication types

Letter

MeSH terms

Diarrhea / genetics
Humans
Membrane Glycoproteins / genetics
Metabolism, Inborn Errors*
Mutation
Mutation, Missense*
Sodium

Substances

Sodium
SPINT2 protein, human
Membrane Glycoproteins

Supplementary concepts

Diarrhea 3, Secretory Sodium, Congenital