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Related Experiment Videos

Asian MODY: are we missing an important diagnosis?

J R Porter1, J J Rangasami, S Ellard

  • 1Institute of Child Health, Birmingham Children's Hospital, Birmingham, UK. j.porter@bham.ac.uk

Diabetic Medicine : a Journal of the British Diabetic Association
|October 24, 2006
PubMed
Summary
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Maturity onset diabetes of the young (MODY) is underdiagnosed in UK Asian children. This study found MODY mutations in three Asian families, highlighting the need for increased testing and awareness in this population.

Area of Science:

  • Endocrinology
  • Genetics
  • Diabetes Research

Background:

  • Maturity onset diabetes of the young (MODY) is a monogenic diabetes form with significant diagnostic and treatment implications.
  • Previous UK studies found no Asian children with MODY, suggesting potential underdiagnosis in this demographic.

Purpose of the Study:

  • To investigate the prevalence of MODY in UK Asian children.
  • To assess the rate of MODY testing in Asian versus White populations in the UK.

Main Methods:

  • Recruited families with dominant diabetes histories.
  • Performed direct sequencing for HNF1A and GCK gene mutations in autoantibody-negative probands.
  • Compared MODY testing data from the Exeter MODY database with UK census data.

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Main Results:

  • Identified three Asian families with MODY gene mutations (two HNF1A, one GCK) and three White UK families.
  • Observed similar heterozygous MODY phenotypes in both Asian and White individuals.
  • Found only 0.5% of UK MODY testing referrals were Asian, despite Asians comprising 4% of the population and having higher diabetes prevalence.

Conclusions:

  • Confirmed the presence of childhood MODY in UK Asians.
  • Demonstrated significantly lower rates of MODY testing among Asian individuals, impacting appropriate treatment.
  • Recommended considering MODY in autoantibody-negative Asian patients without insulin resistance.