Precision Therapy for a Chinese Family With Maturity-Onset Diabetes of the Young.
Precision Therapy for a Chinese Family With Maturity-Onset Diabetes of the Young.
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一个中国青少年发病型糖尿病家庭的精准治疗
DOI：
10.3389/fendo.2021.700342
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发表时间：
2021
影响因子：
5.2
通讯作者：
Zhang H
中科院分区：
文献类型：
--
作者：
Li J;Shu M;Wang X;Deng A;Wen C;Wang J;Jin S;Zhang H
目的探讨葡萄糖激酶（GCK）基因突变所致青年2型成熟型糖尿病（MODY 2）家系的致病基因及临床特点。方法采用全外显子组测序（WES）技术，对先证者--一名20岁的年轻男性进行致病基因检测，该男性被意外发现患有高血糖症，无酮病倾向，有糖尿病家族史。对先证者的家庭成员进行检查。此外，还获得了相关的临床数据，并从外周血中获得了基因组DNA。通过桑格测序技术验证候选人的病理变异，并在其他家庭成员和非相关健康对照中进行共分离检验。在根据基因检测结果调整治疗计划后，确定了生化参数的变化，如血糖水平和HAblc水平。结果先证者及其父亲、叔叔、祖母GCK基因（NM_000162）第9外显子存在c.1160C > T（p.Ala387Val）杂合错义突变。因此，发现与糖尿病共分离的突变是在亚洲人群中首次发现这种突变。在停止降糖药物治疗后，通过饮食和运动治疗实现了良好的血糖控制。结论GCK基因突变c.1160C > T（p.Ala387Val）是GCK MODY家系的致病基因。制定优化、个性化的治疗策略，可以减少不必要的过度医疗和药物不良反应，保持良好的HbA 1c依从率
Objective To determine the pathogenic gene and explore the clinical characteristics of maturity-onset diabetes of the young type 2 (MODY2) pedigree caused by a mutation in the glucokinase (GCK) gene. Methods Using whole-exome sequencing (WES), the pathogenic gene was detected in the proband—a 20-year-old young man who was accidentally found with hyperglycemia, no ketosis tendency, and a family history of diabetes. The family members of the proband were examined. In addition, relevant clinical data were obtained and genomic DNA from peripheral blood was obtained. Pathologic variants of the candidate were verified by Sanger sequencing technology, and cosegregation tests were conducted among other family members and non-related healthy controls. After adjusting the treatment plan based on the results of genetic testing, changes in biochemical parameters, such as blood glucose levels and HAblc levels were determined. Results In the GCK gene (NM_000162) in exon 9, a heterozygous missense mutation c.1160C > T (p.Ala387Val) was found in the proband, his father, uncle, and grandmother. Thus mutation, which was found to co-segregate with diabetes, was the first discovery of such a mutation in the Asian population. After stopping hypoglycemic drug treatment, good glycemic control was achieved with diet and exercise therapy. Conclusion GCK gene mutation c.1160C > T (p.Ala387Val) is the pathogenic gene in the GCK-MODY pedigree. Formulating an optimized and personalized treatment strategy can reduce unnecessary excessive medical treatment and adverse drug reactions, and maintain a good HbA1c compliance rate
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影响因子：
16.2
作者：
American Diabetes Association
通讯作者：
American Diabetes Association
Mody的外显子组测序和基因检测。
影响因子：
3.7
作者：
Johansson S;Irgens H;Chudasama KK;Molnes J;Aerts J;Roque FS;Jonassen I;Levy S;Lima K;Knappskog PM;Bell GI;Molven A;Njølstad PR
通讯作者：
Njølstad PR
美国国家单基因糖尿病注册表中的GCK-Mody：经常被误诊和不必要地治疗。
影响因子：
3.8
作者：
Carmody, David;Naylor, Rochelle N.;Bell, Charles D.;Berry, Shivani;Montgomery, Jazzmyne T.;Tadie, Elizabeth C.;Hwang, Jessica L.;Greeley, Siri Atma W.;Philipson, Louis H.
通讯作者：
Philipson, Louis H.
影响因子：
--
作者：
Ivanoshchuk DE;Shakhtshneider EV;Rymar OD;Ovsyannikova AK;Mikhailova SV;Fishman VS;Valeev ES;Orlov PS;Voevoda MI
通讯作者：
Voevoda MI
DOI：
10.2147/dmso.s23353
发表时间：
2012
期刊：
Diabetes, metabolic syndrome and obesity : targets and therapy
影响因子：
--
作者：
Gardner DS;Tai ES
通讯作者：
Tai ES