TRPV4基因相关疾病的遗传学诊断与管理

doi:10.12372/jcp.2023.22e1621

Abstract

Abstract:

TRPV4 disorders are a group of disorders with the same disease-causing gene but highly heterogeneous phenotypes. TRPV4 disorders can be divided into two different subgroups: neuromuscular disorders and skeletal dysplasia. TRPV4 disorders were clinically classified as multiple independent disorders before their molecular basis was discovered. Therefore, genetic testing is of great significance for the diagnosis and management of TRPV4 disorders. This paper reviews the characteristics of TRPV4 and each disorder, genetic testing methods, genotype-phenotype correlation information and management after diagnosis, providing ideas for the diagnosis and treatment of TRPV4 disorders.

Key words: TRPV4 disorders, neuromuscular disorders, skeletal dysplasia, genetic diagnosis, genotype-phenotype correlation

HU Xuyun, HAO Chanjuan. Genetic diagnosis and management of TRPV4 disorders[J].Journal of Clinical Pediatrics, 2023, 41(2): 86-91.

References 32

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