Clinical Heterogeneity in Monogenic Diabetes Caused by Mutations in the Glucokinase Gene (GCK-MODY). Export

@article{citeulike:6108400, abstract = {Objective: To evaluate the heterogeneity in the clinical expression in a family with GCK-MODY. Research design and methods: Members (three generations) of the same family presented either with overt neonatal hyperglycemia, marked postprandial hyperglycemia or glucosuria. HOMA(IR), insulinogenic and disposition indices were calculated. OGTT results in the glucokinase(GCK)-mutation carriers from this family were compared with those from other subjects with GCK mutations in the same codon (GCK(261)), with other missense and other types of GCK mutations in different codons from the European-MODY-Consortium database (GCK(m)). Results: Mutation G261R was found in the glucokinase gene. During OGTT, glucose (p=0.02) and insulin (p=0.009) response at 2-hours as well as 2h glucose increment (GCK(261) vs. other missense GCK-mutations, p=0.003) were significantly higher in GCK(261) than in GCK(m) carriers. Conclusions: Differing from other GCK(m) carriers, the glucose and insulin response to oral glucose was significantly higher in GCK(261) carriers indicating clinical heterogeneity in GCK-MODY.}, author = {Cuesta-Mu\~{n}oz, Antonio L. and Tuomi, Tiinamaija and Cobo-Vuilleumier, Nadia and Koskela, Hanna and Odili, Stella and Stride, Amanda and Buettger, Carol and Otonkoski, Timo and Froguel, Philippe and Grimsby, Joseph and Garcia-Gimeno, Maria and Matschinsky, Franz M.}, citeulike-article-id = {6108400}, citeulike-linkout-0 = {http://dx.doi.org/10.2337/dc09-0681}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/19903754}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=19903754}, day = {10}, doi = {10.2337/dc09-0681}, issn = {1935-5548}, journal = {Diabetes care}, month = {November}, posted-at = {2009-11-13 11:28:54}, priority = {2}, title = {Clinical Heterogeneity in Monogenic Diabetes Caused by Mutations in the Glucokinase Gene (GCK-MODY).}, url = {http://dx.doi.org/10.2337/dc09-0681}, year = {2009} }

TY - JOUR ID - citeulike:6108400 L3 - citeulike-article-id:6108400 N2 - Objective: To evaluate the heterogeneity in the clinical expression in a family with GCK-MODY. Research design and methods: Members (three generations) of the same family presented either with overt neonatal hyperglycemia, marked postprandial hyperglycemia or glucosuria. HOMA(IR), insulinogenic and disposition indices were calculated. OGTT results in the glucokinase(GCK)-mutation carriers from this family were compared with those from other subjects with GCK mutations in the same codon (GCK(261)), with other missense and other types of GCK mutations in different codons from the European-MODY-Consortium database (GCK(m)). Results: Mutation G261R was found in the glucokinase gene. During OGTT, glucose (p=0.02) and insulin (p=0.009) response at 2-hours as well as 2h glucose increment (GCK(261) vs. other missense GCK-mutations, p=0.003) were significantly higher in GCK(261) than in GCK(m) carriers. Conclusions: Differing from other GCK(m) carriers, the glucose and insulin response to oral glucose was significantly higher in GCK(261) carriers indicating clinical heterogeneity in GCK-MODY. JF - Diabetes care SN - 1935-5548 TI - Clinical Heterogeneity in Monogenic Diabetes Caused by Mutations in the Glucokinase Gene (GCK-MODY). AU - Cuesta-Muñoz, Antonio AU - Tuomi, Tiinamaija AU - Cobo-Vuilleumier, Nadia AU - Koskela, Hanna AU - Odili, Stella AU - Stride, Amanda AU - Buettger, Carol AU - Otonkoski, Timo AU - Froguel, Philippe AU - Grimsby, Joseph AU - Garcia-Gimeno, Maria AU - Matschinsky, Franz PY - 2009/11/10/ UR - http://dx.doi.org/10.2337/dc09-0681 ER -