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Molecular Medicine Reports
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Print ISSN: 1791-2997 Online ISSN: 1791-3004
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March 2013 Volume 7 Issue 3

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Case Report

Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: A case report

  • Authors:
    • Qianqian Xu
    • Huaiyu Qu
    • Shihui Wei
  • View Affiliations / Copyright

    Affiliations: Department of Ophthalmology, PLA General Hospital, Beijing 100853, P.R. China
  • Pages: 965-968
    |
    Published online on: January 17, 2013
       https://doi.org/10.3892/mmr.2013.1277
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Abstract

A 12‑year‑old Chinese girl presented with gradual vision loss and insulin‑dependent diabetes mellitus and was suspected to suffer from Wolfram syndrome (WFS). A series of clinical examinations were performed, as well as direct DNA sequencing to screen the entire coding region of the WFS1 gene in the patient's family, including her parents and a brother. Ophthalmological examination revealed counting fingers/10 cm in the right eye and hand motions/10 cm in the left eye. Ophthalmoscopical examination identified bilateral optic atrophy without any signs of diabetic retinopathy. A hearing test was performed and revealed that the hearing ability for high frequency sounds was decreased. Urinary output in 24 h was >5,000 ml. In addition, a base substitution at c.2411T>C (Leu804Pro) in exon 8 was identified which was homozygous with the patient and heterozygous with the healthy parents and the brother. In the present case, a neuroophthalmology consult performed in the early stages of the disease was crucial for early diagnosis. In addition, this case study highlights the importance of performing a hearing test as well as collecting and analyzing 24‑h urine output in patients presenting with juvenile diabetes mellitus patients and optic atrophy without any signs of diabetic retinopathy.
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Copy and paste a formatted citation
Spandidos Publications style
Xu Q, Qu H and Wei S: Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: A case report. Mol Med Rep 7: 965-968, 2013.
APA
Xu, Q., Qu, H., & Wei, S. (2013). Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: A case report. Molecular Medicine Reports, 7, 965-968. https://doi.org/10.3892/mmr.2013.1277
MLA
Xu, Q., Qu, H., Wei, S."Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: A case report". Molecular Medicine Reports 7.3 (2013): 965-968.
Chicago
Xu, Q., Qu, H., Wei, S."Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: A case report". Molecular Medicine Reports 7, no. 3 (2013): 965-968. https://doi.org/10.3892/mmr.2013.1277
Copy and paste a formatted citation
x
Spandidos Publications style
Xu Q, Qu H and Wei S: Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: A case report. Mol Med Rep 7: 965-968, 2013.
APA
Xu, Q., Qu, H., & Wei, S. (2013). Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: A case report. Molecular Medicine Reports, 7, 965-968. https://doi.org/10.3892/mmr.2013.1277
MLA
Xu, Q., Qu, H., Wei, S."Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: A case report". Molecular Medicine Reports 7.3 (2013): 965-968.
Chicago
Xu, Q., Qu, H., Wei, S."Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: A case report". Molecular Medicine Reports 7, no. 3 (2013): 965-968. https://doi.org/10.3892/mmr.2013.1277
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