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Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia

Bibi, F; Efthymiou, S; Bourinaris, T; Tariq, A; Zafar, F; Rana, N; Salpietro, V; ... Minhas, NM; + view all (2020) Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia. Journal of the Neurological Sciences , 411 , Article 116669. 10.1016/j.jns.2020.116669. Green open access

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Abstract

BAKGROUND: Hereditary Spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of degenerative disorders characterized by progressive spasticity and weakness of the lower limbs. This study aimed to identify causative gene variants in two unrelated consanguineous Pakistani families presented with 2 different forms of HSP. METHODS: Whole exome sequencing (WES) was performed in the two families and variants were validated by Sanger sequencing and segregation analysis. ANALYSIS: In family A, a homozygous pathogenic variant in ZFYVE26 was identified in one family. While in family B, a frameshift variant in CYP2U1 was identified in 4 affected individuals presented with clinical features of SPG56. Our study is the first report of ZFYVE26 mutations causing HSP in the Pakistani population and the second report of CYP2U1 in a Pakistani family. CONCLUSIONS: Our findings enhance the clinical and genetic variability associated with two rare autosomal recessive HSP genes, highlighting the complexity of HSPs. These findings further emphasize the usefulness of WES as a powerful diagnostic tool.

Type: Article
Title: Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia
Location: Netherlands
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.jns.2020.116669
Publisher version: http://dx.doi.org/10.1016/j.jns.2020.116669
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Consanguinity, Next generation sequencing, SPG15, SPG56, Spastic paraplegia
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10094647
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