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Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families
PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan.
PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan.
PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan.
PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan.
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2019 (Engelska)Ingår i: Journal of clinical neuroscience, ISSN 0967-5868, E-ISSN 1532-2653, Vol. 67, s. 19-23Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

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.

Ort, förlag, år, upplaga, sidor
2019. Vol. 67, s. 19-23
Nyckelord [en]
SPG11, SPG56, Ataxia, Spastic paraplegia, Peripheral neuropathy
Nationell ämneskategori
Neurovetenskaper Medicinsk genetik
Identifikatorer
URN: urn:nbn:se:uu:diva-394260DOI: 10.1016/j.jocn.2019.06.039ISI: 000483413600005PubMedID: 31281085OAI: oai:DiVA.org:uu-394260DiVA, id: diva2:1360106
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VetenskapsrådetTillgänglig från: 2019-10-11 Skapad: 2019-10-11 Senast uppdaterad: 2019-10-11Bibliografiskt granskad

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Klar, JoakimSchuster, JensDahl, Niklas

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Klar, JoakimSchuster, JensDahl, Niklas
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Science for Life Laboratory, SciLifeLabMedicinsk genetik och genomik
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Journal of clinical neuroscience
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