Diabetes caused by insulin gene (INS) deletion: clinical characteristics of homozygous and heterozygous individuals
Klemens Raile, Michele O'Connell, Angela Galler, George Werther, Peter Kuehnen, Heiko Krude, Oliver Blankenstein
European Journal of Endocrinology | BIOSCIENTIFICA LTD | Published : 2011
BACKGROUND: Mutations of the preproinsulin gene (INS) account for both permanent neonatal diabetes (PND) and adult-onset diabetes. The molecular mechanism of complete INS deletion has recently been published and we now add clinical data of homozygous and heterozygous subjects as well as the detailed mapping of the 646 bp deletion of the INS gene. METHODS: Location and size of the INS deletion was mapped in one case with PND and INS genotype of the whole family was further characterized by breakpoint-spanning PCR. The phenotype of monoallelic loss of INS was studied in 33 adult family members of a large consanguineous kindred with INS deletion. RESULTS: The 646 bp deletion was found in two in..View full abstract
The research group of K Raile is funded by the Experimental and Clinical Research Center (ECRC), a center jointly established by the Charite Medical Faculty and the Max Delbruck Center for Molecular Medicine, Berlin, Germany. This research did not receive any specific grant from any commercial sector.