Clinical and genetic analysis of a patient with HUPRA syndrome due to missense variants of SARS2 gene and literature review
10.3760/cma.j.cn112148-20231009-00268
- VernacularTitle:SARS2基因错义突变所致HUPRA综合征的临床特征和遗传学分析并文献复习
- Author:
Juan HUANG
1
;
Qiuyu LI
;
Wei JI
;
Xiaofeng GUO
;
Xiaohong HU
Author Information
1. 福建省儿童医院心内科，福州 350011
- Keywords:
Mitochondrial diseases;
SARS2 gene;
HUPRA syndrome;
Missense variants
- From:
Chinese Journal of Cardiology
2024;52(2):172-179
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical manifestations and genotype of an infant with hyperuricemia, pulmonary hypertension, renal failure in infancy, and alkalosis syndrome (HUPRAS).Methods:Clinical data of the patient were collected. Peripheral blood samples from the patient and his parents were acquainted for whole exome sequencing. The filtrated variants were verified by Sanger sequencing. The pathogenicity of the variants was predicted by bioinformatic tools.Results:The patient is a male infant of 6 months old, carrying two missense variants in the SARS2 allele: a paternal inherited c.1205G>A (p. Arg402His) and a maternal inherited c.680G>A (p. Arg227Gln). The two variants were in extremely low population frequencies. The pathogenetic prediction tools categorized them as deleterious. Arg402 and Arg227 were highly conserved in evolution. The variants led to changes in the hydrogen bonds and hydrophobicity of seryl-tRNA synthetase encoded by SARS2.Conclusions:c.1205G>A (p. Arg402His) and c.680G>A (p. Arg227Gln) are the possible causative variants of the HUPRA syndrome.
