Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review

Frontiers in Neurology

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.