A Novel Gene for Neonatal Diabetes Maps to Chromosome 10p12.1-p13

  1. Gabrielle S. Sellick1,
  2. Christine Garrett2 and
  3. Richard S. Houlston1
  1. 1Section of Cancer Genetics, Institute of Cancer Research, Sutton, U.K
  2. 2North West Thames Regional Genetics Service, Kennedy-Galton Centre, North West London Hospitals NHS Trust, Harrow, U.K
  1. Address correspondence and reprint requests to Dr. Richard S Houlston, Section of Cancer Genetics, Institute of Cancer Research, Sutton, SM2 5NG U.K. E-mail: richard.houlston{at}icr.ac.uk

Abstract

We report a genomewide linkage analysis of a large consanguineous family segregating autosomal recessively inherited neonatal diabetes and the identification of a novel neonatal diabetes locus. Neonatal diabetes was characterized by low levels of circulating C-peptide with very low to undetectable levels of insulin in the presence of severe hyperglycemia unresponsive to insulin infusion. A dense genomewide linkage search of the family was undertaken using a first generation 10K single nucleotide polymorphism chip containing 10,044 markers. A region of homozygosity harboring the neonatal diabetes disease gene on chromosome 10p12.1-p13 was identified (multipoint logarithm of odds score 3.25). There is a strong history of type 2 diabetes in carriers of the disease gene. It is likely that chromosome 10p12.1-p13 may harbor a maturity-onset diabetes of the young or type 2 diabetes gene.

Footnotes

    • Accepted July 11, 2003.
    • Received May 15, 2003.
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