Diabetes Case Reports

Research and Development Division, Mapmygenome India Limited, Plot No. 12/2, Royal Demeure, HUDA Techno Enclave, Sector-1, Madhapur, Hyderabad, Telangana-500081, India

Publications

• Case Report   
  HNF1A Gene Mutation (c.811del, p.Arg271Glyfs) Causing Maturity Onset of Diabetes of the Young 3: A Case Study of an Indian Patient
  Author(s): Neelima Chitturi*, Satish Sunkara, Sandhya Kiran Pemmasani and Anuradha Acharya
  
  Background: Maturity-Onset Diabetes of the Young (MODY), a rare class of diabetes that develops in early adulthood, is thought to have a prevalence of less than 5%. The best practice for the management of the MODY is to identify its type, through genetic testing. This paper presents a case study to identify the genetic etiology of diabetes. Case history: The presented case was diagnosed with diabetes at the age of 17 with a strong family history of diabetes. The individual was on insulin (12 units) with high random blood sugar levels (200 mg/dL to 300 mg/ dL) and HbA1c (9.2%). Whole exome sequencing has shown the presence of a known likely pathogenic variant in the HNF1A gene (chr12: 121432062, c.811del, p.Arg271Glyfs), known to cause MODY3. Other unaffected family members were screened for the variant using Sanger s.. View more»
  

  DOI: 10.35841/2572-5629.23.8.158

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