A new mutation in WFS1 gene (c.1522-1523delTA, Y508fsX421) may be responsible for early appearence of clinical features of Wolfram syndrome and suicidal behaviour

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dc.contributor.authorAluclu, Mehmet Ufuk
dc.contributor.authorBahceci, Mithat
dc.contributor.authorTuzcu, Alpaslan
dc.contributor.authorArikan, Senay
dc.contributor.authorGokalp, Deniz
dc.date.accessioned2024-04-24T17:33:11Z
dc.date.available2024-04-24T17:33:11Z
dc.date.issued2006
dc.departmentDicle Üniversitesien_US
dc.description.abstractOBJECTIVE: Wolfram syndrome (WS) is an autosomal recessive disorder characterized by the association of juvenile-onset diabetes mellitus and optic atrophy. It is also known by the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). PATIENTS, METHODS AND RESULTS: We diagnosed Wolfram syndrome in 2 mate siblings and determined a new mutation (c. 1522-1523delTA, Y508fsX421). Both affected siblings were homozygous, other family members were heterozygous. Dilated renal outflow tracts in the third decade, and neuropsychiatric disorders including bipolar disorder and neurosensorial deafness appear in the fourth decade in ordinary WS, whereas these features appeared in second decade in our patients. This mutation may be responsible for early appearance of dilated renal outflow tracts and multiple neurological abnormalities. Psychiatric disturbances such as suicide were reported at increased frequency in Wolfram patients and in heterozygous carriers. Suicidal behaviour occurred in our patients when they were yet 11 and 13 years old. Therefore, our findings may indicate that there may be a relationship between this WFS1 mutation and mood disorder such as suicidal behaviour. CONCLUSIONS: We determined a new mutation (c. 1522-1523delTA, Y508fsX421) in WS1 gene in 2 siblings with Wolfram syndrome. This mutation may be responsible for early appearance of clinical features of Wolfram syndrome, and there may be a relationship between this mutation and suicidal behaviour.en_US
dc.identifier.endpage694en_US
dc.identifier.issn0172-780X
dc.identifier.issue6en_US
dc.identifier.pmid17187023
dc.identifier.scopus2-s2.0-33846448738
dc.identifier.scopusqualityQ3
dc.identifier.startpage691en_US
dc.identifier.urihttps://hdl.handle.net/11468/20505
dc.identifier.volume27en_US
dc.identifier.wosWOS:000243447000001
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherMaghira & Maas Publicationsen_US
dc.relation.ispartofNeuroendocrinology Letters
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectWolfram Syndromeen_US
dc.subjectWfs1 Geneen_US
dc.subjectMutationen_US
dc.subjectOptic Atrophyen_US
dc.subjectSuicidal Behaviouren_US
dc.titleA new mutation in WFS1 gene (c.1522-1523delTA, Y508fsX421) may be responsible for early appearence of clinical features of Wolfram syndrome and suicidal behaviouren_US
dc.titleA new mutation in WFS1 gene (c.1522-1523delTA, Y508fsX421) may be responsible for early appearence of clinical features of Wolfram syndrome and suicidal behaviour
dc.typeArticleen_US

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