Maturity-Onset Diabetes Of The Young, Type 10
A number sign (#) is used with this entry because this form of maturity-onset diabetes of the young (MODY10) is caused by heterozygous mutation in the INS gene (176730) on chromosome 11p15.5.
For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391.
Clinical FeaturesEdghill et al. (2008) described a family with MODY who carried a heterozygous mutation in the INS gene. The proband, her mother, and her maternal grandmother were diagnosed with diabetes at 15, 15, and 65 years of age, respectively. They were nonobese and their diabetes was noninsulin-dependent. The proband was treated with diet alone for 10 years, then oral agents, before starting low-dose insulin; her mother was treated with diet for 40 years before starting oral agents; and her grandmother had been on diet for treatment in the 8 years since diagnosis.
The proband with MODY described by Molven et al. (2008) was diagnosed with diabetes at 20 years of age. His father and a paternal aunt were diagnosed at 18 and 17 years of age, respectively, and his paternal grandmother was diagnosed at 24 years of age. The grandmother, who was deceased, was reportedly treated with insulin; the other 3 patients were primarily treated with diet. Twenty years after diagnosis an oral sulfonylurea was added to the father's regimen, and he was later treated with small doses of insulin.
Molecular GeneticsEdghill et al. (2008) screened the INS gene in 296 probands with maturity-onset diabetes of the young (MODY) and identified heterozygosity for a missense mutation in the INS gene (R6C; 176730.0014) in 1 proband that was not found in 222 UK Caucasian controls.
Molven et al. (2008) analyzed the INS gene in 62 probands with MODY and 30 probands with suspected MODY from the Norwegian MODY registry, and identified a heterozygous missense mutation (R46Q; 176730.0015) in 1 of the 62 families fulfilling conventional MODY criteria.