Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy

Danielle M. Andrade, Tara Paton, Julie Turnbull, Christian R. Marshall, Stephen W. Scherer, Berge A. Minassian

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Progressive myoclonus epilepsies are severe, intractable, and neurodegenerative. They afflict patients of all ages, but more commonly adolescents, and comprise the main differential diagnosis of common juvenile myoclonic epilepsy. Genetic or minimally invasive pathologic diagnoses are available for many but not all teenage-onset progressive myoclonus epilepsies. We describe a multiplex family with autosomal recessive teenage-onset progressive myoclonus epilepsy that had remained undiagnosed despite extensive genetic and pathologic testing. We describe whole exome sequencing combined with homozygosity mapping to identify the disease gene directly and diagnose the family. The affected gene is CLN6, previously known to underlie variant late-infantile and adult-onset neuronal ceroid lipofuscinoses. Combined with other recent work, our results add CLN6 to the genetic mutations causing teenage-onset progressive myoclonus epilepsy, expand the group of teenage-onset progressive myoclonus epilepsy patients who can be diagnosed by genetic testing, and extend the clinical spectrum of CLN6 mutations to include teenage-onset progressive myoclonus epilepsy. This work also exemplifies the potentiality of next-generation sequencing in the genetic identification and diagnosis of patients with neurologic diseases of unknown cause.

Original languageEnglish (US)
Pages (from-to)205-208
Number of pages4
JournalPediatric Neurology
Volume47
Issue number3
DOIs
StatePublished - Sep 1 2012

Fingerprint

Progressive Myoclonic Epilepsy
Mutation
Genes
Genetic Testing
Juvenile Myoclonic Epilepsy
Neuronal Ceroid-Lipofuscinoses
Exome
Nervous System Diseases
Differential Diagnosis

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy. / Andrade, Danielle M.; Paton, Tara; Turnbull, Julie; Marshall, Christian R.; Scherer, Stephen W.; Minassian, Berge A.

In: Pediatric Neurology, Vol. 47, No. 3, 01.09.2012, p. 205-208.

Research output: Contribution to journalArticle

Andrade, Danielle M. ; Paton, Tara ; Turnbull, Julie ; Marshall, Christian R. ; Scherer, Stephen W. ; Minassian, Berge A. / Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy. In: Pediatric Neurology. 2012 ; Vol. 47, No. 3. pp. 205-208.
@article{4bb8fa13ec5c42f294f1c59b87d9d4ee,
title = "Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy",
abstract = "Progressive myoclonus epilepsies are severe, intractable, and neurodegenerative. They afflict patients of all ages, but more commonly adolescents, and comprise the main differential diagnosis of common juvenile myoclonic epilepsy. Genetic or minimally invasive pathologic diagnoses are available for many but not all teenage-onset progressive myoclonus epilepsies. We describe a multiplex family with autosomal recessive teenage-onset progressive myoclonus epilepsy that had remained undiagnosed despite extensive genetic and pathologic testing. We describe whole exome sequencing combined with homozygosity mapping to identify the disease gene directly and diagnose the family. The affected gene is CLN6, previously known to underlie variant late-infantile and adult-onset neuronal ceroid lipofuscinoses. Combined with other recent work, our results add CLN6 to the genetic mutations causing teenage-onset progressive myoclonus epilepsy, expand the group of teenage-onset progressive myoclonus epilepsy patients who can be diagnosed by genetic testing, and extend the clinical spectrum of CLN6 mutations to include teenage-onset progressive myoclonus epilepsy. This work also exemplifies the potentiality of next-generation sequencing in the genetic identification and diagnosis of patients with neurologic diseases of unknown cause.",
author = "Andrade, {Danielle M.} and Tara Paton and Julie Turnbull and Marshall, {Christian R.} and Scherer, {Stephen W.} and Minassian, {Berge A.}",
year = "2012",
month = "9",
day = "1",
doi = "10.1016/j.pediatrneurol.2012.05.004",
language = "English (US)",
volume = "47",
pages = "205--208",
journal = "Pediatric Neurology",
issn = "0887-8994",
publisher = "Elsevier Inc.",
number = "3",

}

TY - JOUR

T1 - Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy

AU - Andrade, Danielle M.

AU - Paton, Tara

AU - Turnbull, Julie

AU - Marshall, Christian R.

AU - Scherer, Stephen W.

AU - Minassian, Berge A.

PY - 2012/9/1

Y1 - 2012/9/1

N2 - Progressive myoclonus epilepsies are severe, intractable, and neurodegenerative. They afflict patients of all ages, but more commonly adolescents, and comprise the main differential diagnosis of common juvenile myoclonic epilepsy. Genetic or minimally invasive pathologic diagnoses are available for many but not all teenage-onset progressive myoclonus epilepsies. We describe a multiplex family with autosomal recessive teenage-onset progressive myoclonus epilepsy that had remained undiagnosed despite extensive genetic and pathologic testing. We describe whole exome sequencing combined with homozygosity mapping to identify the disease gene directly and diagnose the family. The affected gene is CLN6, previously known to underlie variant late-infantile and adult-onset neuronal ceroid lipofuscinoses. Combined with other recent work, our results add CLN6 to the genetic mutations causing teenage-onset progressive myoclonus epilepsy, expand the group of teenage-onset progressive myoclonus epilepsy patients who can be diagnosed by genetic testing, and extend the clinical spectrum of CLN6 mutations to include teenage-onset progressive myoclonus epilepsy. This work also exemplifies the potentiality of next-generation sequencing in the genetic identification and diagnosis of patients with neurologic diseases of unknown cause.

AB - Progressive myoclonus epilepsies are severe, intractable, and neurodegenerative. They afflict patients of all ages, but more commonly adolescents, and comprise the main differential diagnosis of common juvenile myoclonic epilepsy. Genetic or minimally invasive pathologic diagnoses are available for many but not all teenage-onset progressive myoclonus epilepsies. We describe a multiplex family with autosomal recessive teenage-onset progressive myoclonus epilepsy that had remained undiagnosed despite extensive genetic and pathologic testing. We describe whole exome sequencing combined with homozygosity mapping to identify the disease gene directly and diagnose the family. The affected gene is CLN6, previously known to underlie variant late-infantile and adult-onset neuronal ceroid lipofuscinoses. Combined with other recent work, our results add CLN6 to the genetic mutations causing teenage-onset progressive myoclonus epilepsy, expand the group of teenage-onset progressive myoclonus epilepsy patients who can be diagnosed by genetic testing, and extend the clinical spectrum of CLN6 mutations to include teenage-onset progressive myoclonus epilepsy. This work also exemplifies the potentiality of next-generation sequencing in the genetic identification and diagnosis of patients with neurologic diseases of unknown cause.

UR - http://www.scopus.com/inward/record.url?scp=84865028210&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84865028210&partnerID=8YFLogxK

U2 - 10.1016/j.pediatrneurol.2012.05.004

DO - 10.1016/j.pediatrneurol.2012.05.004

M3 - Article

C2 - 22883287

AN - SCOPUS:84865028210

VL - 47

SP - 205

EP - 208

JO - Pediatric Neurology

JF - Pediatric Neurology

SN - 0887-8994

IS - 3

ER -