[Clinical and genetic analysis of a patient with HUPRA syndrome due to missense variants of SARS2 gene and literature review].
| Autor: | Huang J; Department of Cardiology, Fujian Children's Hospital, Fuzhou 350011, China., Li QY; Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart, Lung, Blood Vessel Diseases, Beijing 100029, China., Ji W; Department of Cardiology, Shanghai Jiaotong University School of Medicine, Shanghai Children's Medical Center, Shanghai 200127, China., Guo XF; Department of Pediatrics, Fujian Provincial Maternity and Children's Hospital, Fuzhou 350001, China., Hu XH; Department of Cardiology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China. |
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| Jazyk: | čínština |
| Zdroj: | Zhonghua xin xue guan bing za zhi [Zhonghua Xin Xue Guan Bing Za Zhi] 2024 Feb 24; Vol. 52 (2), pp. 172-179. |
| DOI: | 10.3760/cma.j.cn112148-20231009-00268 |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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