NM_016373.3(WWOX):c.160C>T (p.Arg54Ter) AND Epileptic encephalopathy, early infantile, 28

Clinical significance:Pathogenic (Last evaluated: Jan 23, 2014)

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:
RCV000106406.3

Allele description

NM_016373.3(WWOX):c.160C>T (p.Arg54Ter)

Gene:
WWOX:WW domain containing oxidoreductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.1
Genomic location:
Preferred name:
NM_016373.3(WWOX):c.160C>T (p.Arg54Ter)
HGVS:
  • NC_000016.10:g.78108475C>T
  • NG_011698.1:g.13822C>T
  • NM_001291997.1:c.-167-1303C>T
  • NM_016373.3:c.160C>T
  • NP_057457.1:p.Arg54Ter
  • NC_000016.9:g.78142372C>T
  • NR_120436.1:n.640C>T
Protein change:
R54*; ARG54TER
Links:
OMIM: 605131.0004; dbSNP: rs587777248
NCBI 1000 Genomes Browser:
rs587777248
Molecular consequence:
  • NM_001291997.1:c.-167-1303C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_120436.1:n.640C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_016373.3:c.160C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Epileptic encephalopathy, early infantile, 28 (EIEE28)
Identifiers:
MedGen: CN225654; Orphanet: 442835; OMIM: 616211
Age of onset:
Infancy

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000143899OMIMno assertion criteria providedPathogenic
(Jan 23, 2014)
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

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.

Abdel-Salam G, Thoenes M, Afifi HH, K├Ârber F, Swan D, Bolz HJ.

Orphanet J Rare Dis. 2014 Jan 23;9:12. doi: 10.1186/1750-1172-9-12.

PubMed [citation]
PMID:
24456803
PMCID:
PMC3918143

Details of each submission

From OMIM, SCV000143899.2

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

Description

In an Egyptian girl, born of consanguineous parents, with early infantile epileptic encephalopathy-28 (EIEE28; 616211), Abdel-Salam et al. (2014) identified a homozygous c.160G-T transversion in exon 2 of the WWOX gene, resulting in an arg54-to-ter (R54X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not present in the dbSNP (build 137), 1000 Genomes Project, or Exome Variant Server databases. The patient developed intractable seizures at age 2 months. At age 3 months, she had microcephaly (-3.6 SD), poor growth, and lack of psychomotor development. She had myoclonic movements and hyperreflexia as well as optic atrophy with retinal dysfunction. Brain MRI showed supratentorial atrophy with simplified gyral pattern, hypoplasia of the hippocampus and the temporal lobe, and thin corpus callosum. She was 1 of twins; the other twin was unaffected and heterozygous for the mutation. Death occurred at age 16 months. An older sib had died at age 3 months of a similar disorder. That sib developed seizures at age 40 days and did not follow objects or react to light, suggesting retinal degeneration.

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

Last Updated: May 8, 2017