机构：[1]State Key Laboratory of Primate Biomedical Research, Kunming University of Science and Technology, Kunming, China[2]Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, China[3]Yunnan Key Laboratory of Primate Biomedical Research, Kunming, China[4]Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, National Health Commission KeyLaboratory of Preconception Health Birth in Western China, The First People’s Hospital of Yunnan Province, Kunming, China门急诊片医学遗传科云南省第一人民医院[5]Department of Pediatrics, The First People’s Hospital of Yunnan Province, Kunming, China内科片儿科云南省第一人民医院[6]Medical school, Kunming University of Science and Technology, The First People’s Hospital of Yunnan Province, Kunming, China云南省第一人民医院
Segawa syndrome is a rare autosomal recessive form of dopa-responsive dystonia resulting from TH gene dysfunction. Patients typically exhibit symptoms such as generalized dystonia, rigidity, tremors, infantile Parkinsonism, and pseudo-spastic paraplegia. Levodopa is often an effective treatment. Due to its rarity, high heterogeneity, and poorly understood pathological mutation and phenotype spectrums, as well as genotype-phenotype and genotype-treatment outcome correlations, Segawa syndrome poses diagnostic and therapeutic challenges. In our study, through clinical and molecular analyses of three Chinese Segawa patients, we re-evaluated the pathogenicity of a TH mutation (c.880G>C;p.G294R) previously categorized as "Conflicting classifications of pathogenicity" in ClinVar. Also, we summarized the clinical phenotypes of all reported Segawa syndrome cases until 2023 and compared them with our patients. We identified a novel phenotype, "cafe-au-lait macules," not previously observed in Segawa patients. Additionally, we discussed the correlation between specific genotypes and phenotypes, as well as genotypes and treatment outcomes of our three cases. Our findings aim to enhance the understanding of Segawa syndrome, contributing to improved diagnosis and treatment approaches in the future.
基金：
Ten Thousand People Planning Commission of Yunnan Province; Yunnan Fundamental Research Projects [202101AT070298]; Young and Middle-Aged Academic Leaders Planning Commission of Yunnan Province [202105AC160034]; Basic Research Project-key Projects of Yunnan Province [202301AS070007]; [KH-SWR-MY-2020-011]
第一作者机构：[1]State Key Laboratory of Primate Biomedical Research, Kunming University of Science and Technology, Kunming, China[2]Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, China[3]Yunnan Key Laboratory of Primate Biomedical Research, Kunming, China[4]Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, National Health Commission KeyLaboratory of Preconception Health Birth in Western China, The First People’s Hospital of Yunnan Province, Kunming, China[5]Department of Pediatrics, The First People’s Hospital of Yunnan Province, Kunming, China[6]Medical school, Kunming University of Science and Technology, The First People’s Hospital of Yunnan Province, Kunming, China
通讯作者：
通讯机构：[1]State Key Laboratory of Primate Biomedical Research, Kunming University of Science and Technology, Kunming, China[2]Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, China[3]Yunnan Key Laboratory of Primate Biomedical Research, Kunming, China[5]Department of Pediatrics, The First People’s Hospital of Yunnan Province, Kunming, China[*1]State Key Laboratory of Primate Biomedical Research, Kunming University of Science and Technology, Kunming, Yunnan 650500, China[*2]Department of Pediatrics, The First People’s Hospital of Yunnan Province, Kunming, Yunnan, 650034, China
推荐引用方式(GB/T 7714)：
Zhang Jie,Huang Yaxin,Hu Yulei,et al.Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes[J].INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE.2024,84(4):305-313.doi:10.1002/jdn.10328.
APA：
Zhang, Jie,Huang, Yaxin,Hu, Yulei&Bai, Bing.(2024).Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes.INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE,84,(4)
MLA：
Zhang, Jie,et al."Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes".INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE 84..4(2024):305-313
