A novel gene for neonatal diabetes maps to chromosome 10p12.1-p13

Diabetes. 2003 Oct;52(10):2636-8. doi: 10.2337/diabetes.52.10.2636.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 10 / genetics*
  • Consanguinity
  • Diabetes Mellitus / genetics*
  • Gene Frequency
  • Genes, Recessive
  • Genetic Linkage
  • Genome, Human
  • Genotype
  • Haplotypes
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Oligonucleotide Array Sequence Analysis
  • Pedigree
  • Polymorphism, Single Nucleotide