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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Tarih

2006

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Maghira & Maas Publications

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

OBJECTIVE: 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.

Açıklama

Anahtar Kelimeler

Wolfram Syndrome, Wfs1 Gene, Mutation, Optic Atrophy, Suicidal Behaviour

Kaynak

Neuroendocrinology Letters

WoS Q Değeri

Q4

Scopus Q Değeri

Q3

Cilt

27

Sayı

6

Künye