Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report

Limin Huang; Xiaojing Zhang; Yingying Zhang; Yanfei Wang; Jianhua Mao

doi:10.1159/000533580

Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report

Case Rep Nephrol Dial. 2023 Sep 25;13(1):148-155. doi: 10.1159/000533580. eCollection 2023 Jan-Dec.

Authors

Limin Huang¹, Xiaojing Zhang¹, Yingying Zhang², Yanfei Wang¹, Jianhua Mao¹

Affiliations

¹ Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, China.
² Department of Pediatrics, Clinical Center of Pediatric Nephrology of Henan Province, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Abstract

Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly with brain anomalies in children. Researchers studying GAMOS reported the first pathogenic variant identified was the WDR73 gene, and more recently, four new pathogenic genes, OSGEP, LAGE3, TP53RK, and TPRKB, have been identified. In the present study, we report a new mutation of c.290T>G (p.L97R) LAGE3 in a 4-year-old boy with specific urological and nephrological complications. The patient presented with early-onset proteinuria, brain atrophy, delayed language and motor development, and axial hypotonia. This patient also had mutations in two other genes: TRPC6 and NUP160, make the clinical presentation of this patient more diverse. Our novel findings add to the spectrum of pathogenic variants in the LAGE3 gene. In addition, early genetic diagnosis of GAMOS is essential for genetic counseling and prenatal care.

Keywords: Galloway-Mowat syndrome; LAGE3; Nephrotic syndrome.

Publication types

Case Reports

Grants and funding

National Natural Science Foundation of China (Grant/Award No. U20A20351), Key Research and Development Plan of Zhejiang Province (Grant/Award No. 2021C03079), the Natural Science Foundation of Zhejiang Province (LY22H050001), the key project of provincial ministry construction, Health Science and Technology Project Plan of Zhejiang Province (WKJ-ZJ-2128), and Key Laboratory of Women’s Reproductive Health Research of Zhejiang Province (No. ZDFY2020-RH-0006).