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Background  Characterization of disease-associated balanced translocations has led to the discovery of genes responsible for many disorders, including syndromes that include various forms of diabetes mellitus. We studied a man with unexplained  m aturity  o nset  d iabetes of the  y oung (MODY)-like diabetes and an apparently balanced translocation [46,XY,t(7;10)(q22;p12)] and sought to identify a novel diabetes locus by characterizing the translocation breakpoints.    Results  Mutations in coding exons and splice sites of known MODY genes were first ruled out by PCR amplification and DNA sequencing. Fluorescent in situ hybridization (FISH) studies demonstrated that the translocation did not disrupt two known diabetes-related genes on 10p12. The translocation breakpoints were further mapped to high resolution using FISH and somatic cell hybrids and the junctions PCR-amplified and sequenced. The translocation did not disrupt any annotated transcription unit. However, the chromosome 10 breakpoint was 220 kilobases 5' to the  Membrane Protein, Palmitoylated 7  ( MPP7 ) gene, which encodes a protein required for proper cell polarity. This biological function is shared by  HNF4A , a known MODY gene. Databases show  MPP7  is highly expressed in mouse pancreas and is expressed in human islets. The translocation did not appear to alter lymphoblastoid expression of  MPP7  or other genes near the breakpoints.    Conclusion  The balanced translocation and MODY-like diabetes in the proband could be coincidental. Alternatively, the translocation may cause islet cell dysfunction by altering  MPP7  expression in a subtle or tissue-specific fashion. The potential roles of  MPP7  mutations in diabetes and perturbed islet cell polarity in insulin secretion warrant further study.

molecular cytogenetics

MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes