Detection of PANK2 Gene Mutation in PKAN: A Case Report

Introduction: Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration withbrain iron accumulation (NBIA). Classic type of PKAN formerly called Hallervorden-Spatz disease ischaracterized by early childhood onset of progressive dystonia, dysarthria, and rigidity. Pigmentary retinaldegeneration is common. A characteristic clinical features is the eye of the tiger sign identified on brain MRI.In this abstract, an affected kid in his family studied by molecular genetic tests is presented.Methods: A Neurologist after Carrying out clinical examinations referred a Four-year old boy to us and thenGenomic DNA was tested through whole exome sequencing. Mutations in the PANK2 gene account for mostHSD cases. Such mutations result in an autosomal recessive inborn error. Based on bioinformatics analysis ofcandidate variant, segregation study was performed in healthy family members.Results: One homozygous variant of c.410delG (p.Gly137fs) on the gene PANK2 has been detected. Thisvariant has not been reported, thus its clinical significance is still unknown. According to other studies,approximately 23% of families with PKAN have known or suspected consanguinity and 33% of families withPKAN demonstrate homozygous PANK2 pathogenic variants. On the other hand, its frequency in normalpopulation is very low. In this case, parents are also consanguineous, however, there is no history of otherpatients in their relatives. In addition, segregation analysis showed that the Parents and their healthy children areheterozygote for this variant.Conclusion: According to this case, it can be considered that new molecular methods such as whole exomesequencing can be a practical approach in better diagnosing.

Keywords:

PKAN , Neurodegeneration , Whole exome Sequencing