A novel deletion mutation in epm2a underlies progressive myoclonic epilepsy (Lafora body disease) in a pakistani family

Fizza Orooj; Umm-E-kalsoom; Xiaochu Zhao; Arsalan Ahmad; Imran Nazir Ahmed; Muhammad Faheem; Muhammad Jawad Hassan; Berge A. Minasian

A novel deletion mutation in epm2a underlies progressive myoclonic epilepsy (Lafora body disease) in a pakistani family

Fizza Orooj, Umm-E-kalsoom, Xiaochu Zhao, Arsalan Ahmad, Imran Nazir Ahmed, Muhammad Faheem, Muhammad Jawad Hassan, Berge A. Minasian

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Abstract

Lafora body disease (MIM-254780), a glycogen storage disease, characterized by Lafora bodies (deformed glycogen molecules) accumulating in multiple organs, is a rare form of myoclonic epilepsy. It manifests in early adolescent years, initially with seizures and myoclonus, followed by dementia and progressive cognitive decline, ultimately culminating in death within 10 years. In Pakistan so far 5 cases have been reported. Here, we report a new case of Lafora body disease belonging to a consanguineous family from Pakistan. Histopathological analysis confirmed presence of lafora bodies in the patient`s skin. Sanger sequencing revealed novel homozygous 5bp deletion mutation (NM_005670.4; c.359_363delGTGTG) in exon 2 of the EPM2A gene, which was truly segregated in the family. These results will increase our understanding regarding the aetiology of this disorder and will further add to the mutation spectrum of EPM2A gene.

Original language	English
Pages (from-to)	427-433
Number of pages	7
Journal	Neurology Asia
Volume	26
Issue number	2
Publication status	Published - Jun 2021
Externally published	Yes

Keywords

Consanguineous
Deletion mutation
EPM2A
Lafora body
Myoclonic epilepsy

Cite this

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title = "A novel deletion mutation in epm2a underlies progressive myoclonic epilepsy (Lafora body disease) in a pakistani family",

abstract = "Lafora body disease (MIM-254780), a glycogen storage disease, characterized by Lafora bodies (deformed glycogen molecules) accumulating in multiple organs, is a rare form of myoclonic epilepsy. It manifests in early adolescent years, initially with seizures and myoclonus, followed by dementia and progressive cognitive decline, ultimately culminating in death within 10 years. In Pakistan so far 5 cases have been reported. Here, we report a new case of Lafora body disease belonging to a consanguineous family from Pakistan. Histopathological analysis confirmed presence of lafora bodies in the patient`s skin. Sanger sequencing revealed novel homozygous 5bp deletion mutation (NM_005670.4; c.359_363delGTGTG) in exon 2 of the EPM2A gene, which was truly segregated in the family. These results will increase our understanding regarding the aetiology of this disorder and will further add to the mutation spectrum of EPM2A gene.",

keywords = "Consanguineous, Deletion mutation, EPM2A, Lafora body, Myoclonic epilepsy",

author = "Fizza Orooj and Umm-E-kalsoom and Xiaochu Zhao and Arsalan Ahmad and Ahmed, {Imran Nazir} and Muhammad Faheem and Hassan, {Muhammad Jawad} and Minasian, {Berge A.}",

note = "Funding Information: Financial support: This work was funded in part by the National Institutes of Health under award number P01NS097197. B.A.M. holds the University of Texas Southwestern Jimmy Elizabeth Westcott Chair in Pediatric Neurology. Publisher Copyright: {\textcopyright} 2021, ASEAN Neurological Association. All rights reserved.",

year = "2021",

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language = "English",

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pages = "427--433",

journal = "Neurology Asia",

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AU - Orooj, Fizza

AU - Umm-E-kalsoom,

AU - Zhao, Xiaochu

AU - Ahmad, Arsalan

AU - Ahmed, Imran Nazir

AU - Faheem, Muhammad

AU - Hassan, Muhammad Jawad

AU - Minasian, Berge A.

N1 - Funding Information: Financial support: This work was funded in part by the National Institutes of Health under award number P01NS097197. B.A.M. holds the University of Texas Southwestern Jimmy Elizabeth Westcott Chair in Pediatric Neurology. Publisher Copyright: © 2021, ASEAN Neurological Association. All rights reserved.

PY - 2021/6

Y1 - 2021/6

N2 - Lafora body disease (MIM-254780), a glycogen storage disease, characterized by Lafora bodies (deformed glycogen molecules) accumulating in multiple organs, is a rare form of myoclonic epilepsy. It manifests in early adolescent years, initially with seizures and myoclonus, followed by dementia and progressive cognitive decline, ultimately culminating in death within 10 years. In Pakistan so far 5 cases have been reported. Here, we report a new case of Lafora body disease belonging to a consanguineous family from Pakistan. Histopathological analysis confirmed presence of lafora bodies in the patient`s skin. Sanger sequencing revealed novel homozygous 5bp deletion mutation (NM_005670.4; c.359_363delGTGTG) in exon 2 of the EPM2A gene, which was truly segregated in the family. These results will increase our understanding regarding the aetiology of this disorder and will further add to the mutation spectrum of EPM2A gene.

AB - Lafora body disease (MIM-254780), a glycogen storage disease, characterized by Lafora bodies (deformed glycogen molecules) accumulating in multiple organs, is a rare form of myoclonic epilepsy. It manifests in early adolescent years, initially with seizures and myoclonus, followed by dementia and progressive cognitive decline, ultimately culminating in death within 10 years. In Pakistan so far 5 cases have been reported. Here, we report a new case of Lafora body disease belonging to a consanguineous family from Pakistan. Histopathological analysis confirmed presence of lafora bodies in the patient`s skin. Sanger sequencing revealed novel homozygous 5bp deletion mutation (NM_005670.4; c.359_363delGTGTG) in exon 2 of the EPM2A gene, which was truly segregated in the family. These results will increase our understanding regarding the aetiology of this disorder and will further add to the mutation spectrum of EPM2A gene.

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KW - Deletion mutation

KW - EPM2A

KW - Lafora body

KW - Myoclonic epilepsy

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SN - 1823-6138

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JO - Neurology Asia

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ER -

A novel deletion mutation in epm2a underlies progressive myoclonic epilepsy (Lafora body disease) in a pakistani family

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