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
