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

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作者单位: ¹Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China ²Department of Pediatrics, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China ⁴Medical Science and Technology Innovation Center, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, China ⁵Obstetrics Department, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China ³School of Life Sciences, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, China

关键词: PANK2 gene pantothenate kinase-associated neurodegeneration whole exome sequencing case report review

摘要: Pantothenate kinase-associated neurodegeneration 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 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 demonstrate...更多; Pantothenate kinase-associated neurodegeneration 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 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 identified compound heterozygous mutations of c.1213T>G and c.1502T>A 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.收起

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