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September 10, 2025

gene mutation associated with pediatric diabetes mellitus and congenital deafness: A case report.

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Authors

AGAi-Min GaoThe First People's Hospital of GuiyangWDWanling DengJinan UniversityXYXinping YangKunming Children's Hospital

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Implication

Case report highlights a novel WFS1 mutation causing diabetes and hearing loss in a child, suggesting early genetic testing.

Key Points

  • Early genetic testing can significantly improve diagnosis and treatment for pediatric patients with atypical diabetes.
  • Identification of the WFS1 c.986T>C mutation provides a novel insight into the genetic basis of Wolfram syndrome.
  • Patient's diabetes management was optimized through a combination of insulin therapies, achieving good glycemic control.
  • Genetic counseling for families with Wolfram syndrome is critical for understanding the implications of the condition.

Cite This Study

Gao et al. (2025) studied this question.

synapsesocial.com/papers/68c1885e9b7b07f3a06128dahttps://doi.org/10.4239/wjd.v16.i8.108946
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts2017 · 111 citations
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  3. 3[Clinical guidelines for prevention and treatment of type 2 diabetes mellitus in the elderly in China (2022 edition)].2022 · 262 citations
  4. 4Residual β cell function and monogenic variants in long-duration type 1 diabetes patients2019 · 88 citations
  5. 5Maturity-onset Diabetes of the Young Type 7 (MODY7) and the Krüppellike Factor 11 Mutation (KLF11). A Review2023 · 6 citations