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Whole exome sequenc...
Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families
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- Zulfiqar, Shumaila (author)
- PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan
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- Tariq, Muhammad (author)
- PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan
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- Ali, Zafar (author)
- PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan
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- Fatima, Ambrin (author)
- PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan
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- Klar, Joakim, 1974- (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
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- Abdullah, Uzma (author)
- PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan
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- Ali, Aamir (author)
- PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan
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- Ramzan, Shafaq (author)
- PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan
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- He, Sijie (author)
- Allied Hosp, Radiol Dept, Faisalabad, Pakistan;BGI Shenzhen, Shenzhen 518083, Peoples R China
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- Zhang, Jianguo (author)
- BGI Shenzhen, Shenzhen 518083, Peoples R China
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- Khan, Ayaz (author)
- PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan
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- Shah, Suleman (author)
- PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan
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- Khan, Sheraz (author)
- PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan
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- Makhdoom, Ehtishamul Haq (author)
- Govt Coll Univ, Dept Physiol, Faisalabad, Pakistan
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- Schuster, Jens, Assistant Professor, 1972- (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
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- Dahl, Niklas (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
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- Baig, Shahid Mahmood (author)
- PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan
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(creator_code:org_t)
- Elsevier BV, 2019
- 2019
- English.
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In: Journal of clinical neuroscience. - : Elsevier BV. - 0967-5868 .- 1532-2653. ; 67, s. 19-23
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Hereditary Spastic paraplegias (HSPs) are heterogeneous group of degenerative disorders characterized by progressive weakness and spasticity of the lower limbs, combined with additional neurological features. This study aimed to identify causative gene variants in two nonrelated consanguineous Pakistani families segregating HSP. Whole exome sequencing (WES) was performed on a total of five individuals from two families including four affected and one phenotypically normal individual. The variants were validated by Sanger sequencing and segregation analysis. In family A, a novel homozygous variant c.604G > A (p.Glu202Lys) was identified in the CYP2U1 gene with clinical symptoms of SPG56 in 3 siblings. Whereas, a previously reported variant c.5769delT (p.Ser1923Argfs*28) in the SPG11 gene was identified in family B manifesting clinical features of SPG11 in 3 affected individuals. Our combined findings add to the clinical and genetic variability associated with CYP2U1 and SPG11 variants highlighting the complexity of HSPs. These findings further emphasize the usefulness of WES as a powerful diagnostic tool.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- SPG11
- SPG56
- Ataxia
- Spastic paraplegia
- Peripheral neuropathy
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Zulfiqar, Shumai ...
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Tariq, Muhammad
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Ali, Zafar
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Fatima, Ambrin
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Klar, Joakim, 19 ...
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Abdullah, Uzma
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Ali, Aamir
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Ramzan, Shafaq
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He, Sijie
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Zhang, Jianguo
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Khan, Ayaz
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Shah, Suleman
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Khan, Sheraz
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Makhdoom, Ehtish ...
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Schuster, Jens, ...
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Dahl, Niklas
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Baig, Shahid Mah ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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Journal of clini ...
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Uppsala University