CHD2, GLU1412GLYFSTER64 AND Epileptic encephalopathy, childhood-onset

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000054508.4

Allele description [Variation Report for CHD2, GLU1412GLYFSTER64]

CHD2, GLU1412GLYFSTER64

Gene:
CHD2:chromodomain helicase DNA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Variation
Cytogenetic location:
15q26
Preferred name:
CHD2, GLU1412GLYFSTER64
Other names:
E1412GFSTER64
Links:
OMIM: 602119.0002

Condition(s)

Name:
Epileptic encephalopathy, childhood-onset (EEOC)
Identifiers:
MedGen: C3809278; Orphanet: 1942; Orphanet: 2382; OMIM: 615369
Age of onset:
Childhood
Prevalence:
1-9 / 1 000 000 2382

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000082986OMIMno assertion criteria providedPathogenic
(Jul 1, 2013)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, et al.

Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646.

PubMed [citation]
PMID:
23708187
PMCID:
PMC3704157

Details of each submission

From OMIM, SCV000082986.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 17-year-old boy with EEOC (615369), Carvill et al. (2013) identified a de novo heterozygous frameshift mutation in the CHD2 gene, resulting in premature termination (Glu1412GlyfsTer64) and likely resulting in haploinsufficiency. The patient had onset of atonic seizures at age 1 year and later developed absence seizures, febrile seizures, myoclonic-atonic jerks, and tonic-clonic seizures associated with generalized 3.8-Hz spike-wave abnormalities on EEG. He had mildly delayed development before the onset of seizures, and moderate intellectual disability and autism spectrum disorder later. The clinical diagnosis was 'myoclonic atonic epilepsy.' The mutation was identified by targeted sequencing of candidate genes.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 16, 2016