case report A Novel Heterozygous Missense Mutation in UMOD Gene in a Chinese Family with Familial Juvenile Hyperuricemic Nephropathy: A Case Report
Mingyu Xie1,2*, Haisheng Zeng1, Xian Zou1, Yumei Chen1, Wanting Chen1, Zhenhong Zhang1,2, Xiaomei Lu1,2
1Department of Nephrology Department, Dongguan Children’s Hospital, Dongguan, Guangdong, China
2Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China
*Corresponding author: Mingyu Xie, Department of Nephrology Department, Dongguan Children’s Hospital, Dongguan, Guangdong, China
Received Date: 21 February 2023
Accepted Date: 25 February 2023
Published Date: 01 March 2023
Citation: Xie M, Zeng H, Zou X, Chen Y, Chen W, et al. (2023) A Novel Heterozygous Missense Mutation in UMOD Gene in a Chinese Family with Familial Juvenile Hyperuricemic Nephropathy: A Case Report. Arch Pediatr 8: 248. DOI: https://doi.org/10.29011/2575-825X.100248
Abstract
Background: Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal dominant disease characterized by hyperuricemia, gout, and chronic renal failure. The UMOD variants are the most common genetic cause of FJHN. Case presentation: We report a novel heterozygous pathogenic UMOD mutations c. 296 G>A (p. Arg99His) in a 5-year-old boy who presented with hyperuricemia and gouty arthritis. This UMOD mutation was also carried by the proband’s elder sister, father, uncle, cousin and grandfather, who had similar clinical signs. The family members were treated with allopurinol and controlled diet to maintain the serum uric acid levels. None of them developed end stage renal disease. The mutation segregated in the family and was the cause of the disease in the proband. c. 296 G>A (p. Arg99His) mutation was not described in the ExaC, GNomAD and 1000 Genomes Project databases. The mutated amino acids were located in a highly conserved region of the UMOD protein. This mutation was predicted to be damaging and deleterious. A phenotype-genotype correlation analysis of UMOD variants was consistent with those clinical signs. Conclusions: Our finding suggest that genetic test for specific mutation in UMOD gene should be included in the diagnosis for patients with hyperuricemia, gout, or unexplained chronic kidney disease.
Keywords: Hyperuricemia; Gout; UMOD; Mutation; China
Abbreviations: FJHN: Familial Juvenile Hyperuricemic Nephropathy; ACMG: American College of Medical Genetics; eGFR: Estimated Glomerular Filtration Rate; EGF: Epidermal Growth Factor