A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir – India
Abstract Pantothenate kinase-associated neurodegeneration is a rare hereditary neurodegenerative disorder associated with nucleotide variation(s) in mitochondrial human Pantothenate kinase 2 (hPanK2) protein encoding PANK2 gene, and is characterized by symptoms of extra-pyramidal dysfunction and acc...
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2017
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oai:doaj.org-article:489c4bd2dfb94413be2ad62d69e5e0bb2021-12-02T11:40:44ZA variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir – India10.1038/s41598-017-05388-92045-2322https://doaj.org/article/489c4bd2dfb94413be2ad62d69e5e0bb2017-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-05388-9https://doaj.org/toc/2045-2322Abstract Pantothenate kinase-associated neurodegeneration is a rare hereditary neurodegenerative disorder associated with nucleotide variation(s) in mitochondrial human Pantothenate kinase 2 (hPanK2) protein encoding PANK2 gene, and is characterized by symptoms of extra-pyramidal dysfunction and accumulation of non-heme iron predominantly in the basal ganglia of the brain. In this study, we describe a familial case of PKAN from the State of Jammu and Kashmir (J&K), India based on the clinical findings and genetic screening of two affected siblings born to consanguineous normal parents. The patients present with early-onset, progressive extrapyramidal dysfunction, and brain Magnetic Resonance imaging (MRI) suggestive of symmetrical iron deposition in the globus pallidi. Screening the PANK2 gene in the patients as well as their unaffected family members revealed a functional single nucleotide variation, perfectly segregating in the patient’s family in an autosomal recessive mode of inheritance. We also provide the results of in-silico analyses, predicting the functional consequence of the identified PANK2 variant.Arshia AnguralInderpal SinghAnkit MahajanPranav PandohManoj K DharSanjana KaulVijeshwar VermaEkta RaiSushil RazdanKamal Kishore PanditaSwarkar SharmaNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-8 (2017) |
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Medicine R Science Q Arshia Angural Inderpal Singh Ankit Mahajan Pranav Pandoh Manoj K Dhar Sanjana Kaul Vijeshwar Verma Ekta Rai Sushil Razdan Kamal Kishore Pandita Swarkar Sharma A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir – India |
| description |
Abstract Pantothenate kinase-associated neurodegeneration is a rare hereditary neurodegenerative disorder associated with nucleotide variation(s) in mitochondrial human Pantothenate kinase 2 (hPanK2) protein encoding PANK2 gene, and is characterized by symptoms of extra-pyramidal dysfunction and accumulation of non-heme iron predominantly in the basal ganglia of the brain. In this study, we describe a familial case of PKAN from the State of Jammu and Kashmir (J&K), India based on the clinical findings and genetic screening of two affected siblings born to consanguineous normal parents. The patients present with early-onset, progressive extrapyramidal dysfunction, and brain Magnetic Resonance imaging (MRI) suggestive of symmetrical iron deposition in the globus pallidi. Screening the PANK2 gene in the patients as well as their unaffected family members revealed a functional single nucleotide variation, perfectly segregating in the patient’s family in an autosomal recessive mode of inheritance. We also provide the results of in-silico analyses, predicting the functional consequence of the identified PANK2 variant. |
| format |
article |
| author |
Arshia Angural Inderpal Singh Ankit Mahajan Pranav Pandoh Manoj K Dhar Sanjana Kaul Vijeshwar Verma Ekta Rai Sushil Razdan Kamal Kishore Pandita Swarkar Sharma |
| author_facet |
Arshia Angural Inderpal Singh Ankit Mahajan Pranav Pandoh Manoj K Dhar Sanjana Kaul Vijeshwar Verma Ekta Rai Sushil Razdan Kamal Kishore Pandita Swarkar Sharma |
| author_sort |
Arshia Angural |
| title |
A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir – India |
| title_short |
A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir – India |
| title_full |
A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir – India |
| title_fullStr |
A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir – India |
| title_full_unstemmed |
A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir – India |
| title_sort |
variation in pank2 gene is causing pantothenate kinase-associated neurodegeneration in a family from jammu and kashmir – india |
| publisher |
Nature Portfolio |
| publishDate |
2017 |
| url |
https://doaj.org/article/489c4bd2dfb94413be2ad62d69e5e0bb |
| work_keys_str_mv |
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