J. Huang, Q. Y. Li. W. Ji, X.F. Guo, X. H. Hu
Fujian Children’s Hospital. Beijing Anzhen Hospital and Capital Medical University. Shanghai Jiaotong University School of Medicine and Shanghai Children’s Medical Center. Fujian Provincial Maternity and Children’s Hospital. Xinhua Hospital.
China
Zhonghua Xin Xue Guan Bing Za Zhi 2024; 52: 172-179
DOI: 10.3760/cma.j.cn112148-20231009-00268
Abstract (English)
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.
Category
Class V. Pulmonary Hypertension Associated with Hematological, Systemic, Metabolic and Other Disorders
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
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