Frontiers in Neurology | |
Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review | |
Neurology | |
Lihong Wang1  Chen Zhao1  Yilun Tao2  Dong Han2  Xiaoze Li2  Wenxia Song3  Yiju Wei4  | |
[1] Department of Pediatrics, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China;Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China;Obstetrics Department, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China;School of Life Sciences, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, China;Medical Science and Technology Innovation Center, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, China; | |
关键词: PANK2; pantothenate kinase-associated neurodegeneration; whole exome sequencing; case report; review; | |
DOI : 10.3389/fneur.2023.1170557 | |
received in 2023-02-21, accepted in 2023-04-04, 发布年份 2023 | |
来源: Frontiers | |
【 摘 要 】
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic neurodegenerative disorder with brain iron accumulation characterized as dysarthria, spasticity, cognitive impairment, parkinsonism, and retinopathy. PKAN is caused by biallelic mutations in the mitochondrial pantothenate kinase 2 (PANK2) gene. Herein, we report a 4-year-old patient with PKAN from a Han Chinese family, who presented with developmental regression, progressive inability to walk, and limb tremors. Neuroimaging demonstrated “eye-of-the-tiger” sign. Whole exome sequencing (WES) identified compound heterozygous mutations of c.1213T>G (p.Tyr405Asp) and c.1502T>A (p.Ile501Asn) in PANK2 gene. In addition, a review of all known PANK2 variants observed in reported PKAN patients was conducted, to improve understanding of the genotype-phenotype associations that occur in PKAN patients.
【 授权许可】
Unknown
Copyright © 2023 Tao, Zhao, Han, Wei, Wang, Song and Li.
【 预 览 】
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RO202310107224667ZK.pdf | 1443KB | download |