A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis

Saisai Yang; Guanghui Yao; Xin Chen; Huirong Shi; Chihhong Lou; Shumin Ren; Zhihui Jiao; Cong Wang; Xiangdong Kong; Qinghua Wu

doi:10.1186/s12882-022-02783-x

A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis

BMC Nephrol. 2022 Jun 27;23(1):227. doi: 10.1186/s12882-022-02783-x.

Authors

Saisai Yang^#¹, Guanghui Yao^#¹, Xin Chen¹, Huirong Shi¹, Chihhong Lou², Shumin Ren¹, Zhihui Jiao¹, Cong Wang¹, Xiangdong Kong¹, Qinghua Wu³

Affiliations

¹ Department of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.
² Gene Editing and Viral Vector Core, City of Hope Medical Center, Duarte, Los Angeles, CA, 91006, USA.
³ Department of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China. qh_wu77@163.com.

^# Contributed equally.

Abstract

Nephrolithiasis is not common in children, but the incidence is gradually increased in these years. Urinary tract malformations, urinary infection, dietary habits, geographic region and genetic factor are involved in the etiology of nephrolithiasis. For the affected child, it is especially important to elucidate the etiology, which may provide an accurate diagnosis, a personalized therapy and effective follow-up strategy. Here to seek the etiology of a ten-year-old boy incidentally found with nephrolithiasis, next generation sequencing (NGS) including a panel with 248 genes involved in hereditary kidney diseases was performed for the boy and identified two mutations of KCNJ1, c.89G > A (p.C30Y) and c.65G > T (p.R22M), and the later was a novel missense mutation originated from his father. The child was confirmed with type II Bartter syndrome (BS) caused by KCNJ1 mutations. Our study suggests that BS may be difficult to get diagnosed at an early stage based on clinical manifestations or biochemical laboratory tests, and NGS is an efficient way to determine the etiology and provide further treatment and guide fertility counseling for the affected family.

Keywords: Bartter syndrome; KCNJ1; Nephrolithiasis; Next generation sequencing.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Bartter Syndrome*
Child
High-Throughput Nucleotide Sequencing
Humans
Kidney Calculi*
Male
Mutation
Potassium Channels, Inwardly Rectifying* / genetics

Substances

KCNJ1 protein, human
Potassium Channels, Inwardly Rectifying