A Novel Gene for Neonatal Diabetes Maps to Chromosome 10p12.1-p13
- 1Section of Cancer Genetics, Institute of Cancer Research, Sutton, U.K
- 2North West Thames Regional Genetics Service, Kennedy-Galton Centre, North West London Hospitals NHS Trust, Harrow, U.K
- 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.
- LOD, logarithm of odds
- MODY, maturity-onset diabetes of the young
- PDX-1, pancreas duodenum homeobox-1
- SNP, single nucleotide polymorphism
- UPD6, uniparental isodisomy of chromosome 6
Footnotes
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- Accepted July 11, 2003.
- Received May 15, 2003.
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