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Novel PANK2 mutation discovered among South East Asian children living in Thailand affected with pantothenate kinase associated neurodegeneration.

Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) is linked to brain iron accumulation caused by PANK2 gene mutation. Despite the importance of genetic testing to confirm PKAN and identify at risk parents, genetic screening is financially burdensome for developing countries like Thailand. Because genetic screeners are expensive and not reimbursed by the universal health care coverage system, they are not typically performed. To investigate clinical symptoms, radiological findings and mutation analysis for patients based in Thailand with unknown genetic status but suspected PKAN based on clinical symptoms. Genetic testing was performed for cases suspected for PKAN and their biological parents by direct genomic sequencing of PANK2 at Maharat Nakhon Ratchasima Hospital during 2017-2018. Clinical evaluation and documentation were performed by pediatric neurologists. Five children had classical onset form of PKAN. Most presented with gait dystonia. Three patients diagnosed after 4 years showed the eye-of-the-tiger sign in their brain MRI, whereas two younger patients revealed only isolated hyperintensity bilateral globus pallidus. However, PANK2 mutations were identified in all cases: the most common mutation was c.982-1G>C. This mutation was detected in four unrelated individuals but not reported in other studies. Genetic testing is recommended to confirm diagnoses in cases with supporting clinical features of PKAN with or without the classical 'eye-of-the-tiger-sign'. A novel PANK2 mutation (c.982-1G>C) was identified in South East Asian populations based in Thailand, suggesting that this genetic variant is a founder genotype in this population. Moreover, genetic diagnosis is helpful to provide appropriate genetic counseling to families.

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  • Authors+Show Affiliations

    ,

    Division of Neurology, Department of Pediatrics, Queen Sirikit National Institute of Child Health, Ministry of Public Health, College of Medicine, Rangsit University, Bangkok, Thailand.

    ,

    Department of Pediatrics, Maharat Nakhon Ratchasima Hospital, Nakhon Ratchasima, Thailand.

    ,

    Department of Pediatrics, Ratchaburi Hospital, Ratchaburi, Thailand.

    ,

    Department of Pediatrics, Udon Thani Hospital, Udon Thani, Thailand.

    ,

    Center for Medical Genomics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

    Center for Medical Genomics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. Electronic address: objoon.tra@mahidol.ac.th.

    Source

    Pub Type(s)

    Journal Article

    Language

    eng

    PubMed ID

    31088771

    Citation

    Sakpichaisakul, Kullasate, et al. "Novel PANK2 Mutation Discovered Among South East Asian Children Living in Thailand Affected With Pantothenate Kinase Associated Neurodegeneration." Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, vol. 66, 2019, pp. 187-190.
    Sakpichaisakul K, Saengow VE, Suwanpratheep P, et al. Novel PANK2 mutation discovered among South East Asian children living in Thailand affected with pantothenate kinase associated neurodegeneration. J Clin Neurosci. 2019;66:187-190.
    Sakpichaisakul, K., Saengow, V. E., Suwanpratheep, P., Rongnoparat, K., Panthan, B., & Trachoo, O. (2019). Novel PANK2 mutation discovered among South East Asian children living in Thailand affected with pantothenate kinase associated neurodegeneration. Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 66, pp. 187-190. doi:10.1016/j.jocn.2019.04.017.
    Sakpichaisakul K, et al. Novel PANK2 Mutation Discovered Among South East Asian Children Living in Thailand Affected With Pantothenate Kinase Associated Neurodegeneration. J Clin Neurosci. 2019;66:187-190. PubMed PMID: 31088771.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Novel PANK2 mutation discovered among South East Asian children living in Thailand affected with pantothenate kinase associated neurodegeneration. AU - Sakpichaisakul,Kullasate, AU - Saengow,Vitchayaporn E, AU - Suwanpratheep,Papit, AU - Rongnoparat,Kanokpan, AU - Panthan,Bhakbhoom, AU - Trachoo,Objoon, Y1 - 2019/05/11/ PY - 2018/03/23/received PY - 2019/01/11/revised PY - 2019/04/28/accepted PY - 2019/5/16/pubmed PY - 2019/5/16/medline PY - 2019/5/16/entrez KW - Eye-of-the-tiger sign KW - NBIA KW - PANK2 KW - Pantothenate kinase associated neurodegeneration SP - 187 EP - 190 JF - Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia JO - J Clin Neurosci VL - 66 N2 - Pantothenate kinase-associated neurodegeneration (PKAN) is linked to brain iron accumulation caused by PANK2 gene mutation. Despite the importance of genetic testing to confirm PKAN and identify at risk parents, genetic screening is financially burdensome for developing countries like Thailand. Because genetic screeners are expensive and not reimbursed by the universal health care coverage system, they are not typically performed. To investigate clinical symptoms, radiological findings and mutation analysis for patients based in Thailand with unknown genetic status but suspected PKAN based on clinical symptoms. Genetic testing was performed for cases suspected for PKAN and their biological parents by direct genomic sequencing of PANK2 at Maharat Nakhon Ratchasima Hospital during 2017-2018. Clinical evaluation and documentation were performed by pediatric neurologists. Five children had classical onset form of PKAN. Most presented with gait dystonia. Three patients diagnosed after 4 years showed the eye-of-the-tiger sign in their brain MRI, whereas two younger patients revealed only isolated hyperintensity bilateral globus pallidus. However, PANK2 mutations were identified in all cases: the most common mutation was c.982-1G>C. This mutation was detected in four unrelated individuals but not reported in other studies. Genetic testing is recommended to confirm diagnoses in cases with supporting clinical features of PKAN with or without the classical 'eye-of-the-tiger-sign'. A novel PANK2 mutation (c.982-1G>C) was identified in South East Asian populations based in Thailand, suggesting that this genetic variant is a founder genotype in this population. Moreover, genetic diagnosis is helpful to provide appropriate genetic counseling to families. SN - 1532-2653 UR - https://www.unboundmedicine.com/medline/citation/31088771/Novel_PANK2_mutation_discovered_among_South_East_Asian_children_living_in_Thailand_affected_with_pantothenate_kinase_associated_neurodegeneration L2 - https://linkinghub.elsevier.com/retrieve/pii/S0967-5868(18)30505-8 DB - PRIME DP - Unbound Medicine ER -