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Article

Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive Overview.

Cells - 7 Apr 2021

Banne Ehud, Abudiab Baraa, Abu-Swai Sara, Repudi Srinivasa Rao, Steinberg Daniel J, Shatleh Diala, Alshammery Sarah, Lisowski Leszek, Gold Wendy, Carlen Peter L, Aqeilan Rami I

Abstract excerpt

The transcriptional regulator WW domain-containing oxidoreductase (WWOX) is a key player in a number of cellular and biological processes including tumor suppression. Recent evidence has emerged associating WWOX with non-cancer disorders. Patients harboring pathogenic germline bi-allelic WWOX variants have been described with the rare devastating neurological syndromes autosomal recessive spinocerebellar ataxia...

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Identifiers

PMID: 33916893
DOI: 10.3390/cells10040824
PMCID: PMC8067556

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Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive Overview.PMID 33916893Read ↗

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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureSemantic proximity Read ↗

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Identification of compound heterozygous deletions in the WWOX gene caused WOREE syndrome by whole exome sequencingSemantic proximity Read ↗

Novel compound heterozygous mutations in the WWOX gene cause early infantile epileptic encephalopathy.Semantic proximity Read ↗

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.Semantic proximity Read ↗

Compound heterozygous deletions of the WWOX gene caused a WOREE syndrome associated with severe epileptic encephalopathySemantic proximity Read ↗

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.Semantic proximity Read ↗

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