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Pantothenate kinase associated neurodegeneration (PKAN) is a severe autosomal recessive rare disease and characterized by iron accumulation in the basal ganglia. To investigate the pathogenesis of this disease in two sibling patients with PANK in a Chinese family, whole-exome variant detection and functional analysis were performed. Clinical and radiographic investigations were performed in the two brother patients. Whole exome sequencing (WES) was used in mutation detection, and the mutations were confirmed by Sanger sequencing. A longevity cohort genetic database was applied as Chinese urban controls. Bioinformatic analysis was performed to predict the pathogenicity. Compound heterozygous mutations of  PANK2  were detected in two sibling brothers with PKAN in a Chinese family: c.510_522del (p.A170fs) and c.1319G &gt; C (p.R440P) in the transcript NM_153638.  PANK2 : c.510_522del (p.A170fs) was absent in public data and the Chinese urban controls. Bioinformatics analysis showed that the above two variants were pathogenicity. We identified a rare compound heterozygous combination of  PANK2  mutations found in a Chinese family in which two sibling brothers suffered from PKAN.  PANK2  c.510_522del (p.A170fs) was the first reported to be a PKAN pathogenic variant.

international journal of neuroscience

PANK2  p.A170fs：a novel pathogenetic mutation, compound with  PANK2  p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family