| Summary: | 碩士 === 臺灣大學 === 分子醫學研究所 === 98 === In diabetes, only 2-5% is maturity-onset diabetes of the young (MODY), single gene autosomal dominant inheritance diseases. According to the inheritance, patients and family members could assess their risk, monitor the blood sugar regularly and prevent diabetes complications early. Moreover, the health care workers and the patients can expect course of the disease within possible extent by different genotypes. To date, mutations in nine genes were identified to cause MODY, and subdivided into nine subtype of MODY. From the literatures, patients with family history of MODY in Europe, mutations can be found in 70 - 80%. However, mutations can be found in no more than 20% of the patients in Asia. In Taiwan, only one case was reported. But is this really the prevalence of MODY in Taiwan? In this study, we include 4 cases of MODY, and another case without any mutation in MODY1 - 6, totally 5 cases. By screening 9 MODY genes using direct sequencing, we found a case who had diabetes at 16 year old carries a heterozygous HNF1αP379fsdelCT mutation, her father and sister have the same mutation but with much milder clinical symptoms. And another boy who had onset at 13 years old has heterozygous CEL D504H variant. We are not sure whether the variant is a mutation yet, because there is no functional study or frequency report about this point.
This study not only provided new information of MODY genotypes in Taiwan, but also the novel clinical record of a MODY3 case. This study would help improve genetic testing and counseling of MODY.
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