PDF(Pubmed)
Abstract：
UNASSIGNED: Diabetes is a chronic disorder with a complex pathogenetic background including monogenic, polygenic, and environmental causes.
UNASSIGNED: The aim of the present paper is to share the information related to genetic and clinical data of large pediatric diabetes cohort.
UNASSIGNED: The present study retrospectively analyzes genetic and clinical findings of subjects diagnosed with diabetes under the age of 18 year and are in follow-up in a pediatric diabetes referral center.
UNASSIGNED: Out of 1205 children with diabetes (902 treated with insulin) 246 underwent genetic tests on the basis of clinical selection criteria since 2007.
UNASSIGNED: One hundred and ten variants related to diabetes were found in 89 of them. Age at presentation was 9.5±4.02 years (F/M 44/45). In total 49 pathogenic and likely pathogenic, 11 \"hot and warm\" of unknown significance variants were found in fourteen MODY and fifteen non-MODY genes according to criteria developed by American College of Medical Genetics. Thirty novel mutations were found. GCK (26.6%) and ABCC8 (10%) were two most frequently affected genes. Antibody testing revealed negative results in 80% of cases.
UNASSIGNED: Genetic interpretation in selected cases is important to understand the nature of the disease better. Improvement in testing opportunity and awareness might increase the prevalence of genetically explained diabetes cases. The distribution of subtypes differs between countries and even regions of the same country.
UNASSIGNED: The aim of the present paper is to share the information related to genetic and clinical data of large pediatric diabetes cohort.
UNASSIGNED: The present study retrospectively analyzes genetic and clinical findings of subjects diagnosed with diabetes under the age of 18 year and are in follow-up in a pediatric diabetes referral center.
UNASSIGNED: Out of 1205 children with diabetes (902 treated with insulin) 246 underwent genetic tests on the basis of clinical selection criteria since 2007.
UNASSIGNED: One hundred and ten variants related to diabetes were found in 89 of them. Age at presentation was 9.5±4.02 years (F/M 44/45). In total 49 pathogenic and likely pathogenic, 11 \"hot and warm\" of unknown significance variants were found in fourteen MODY and fifteen non-MODY genes according to criteria developed by American College of Medical Genetics. Thirty novel mutations were found. GCK (26.6%) and ABCC8 (10%) were two most frequently affected genes. Antibody testing revealed negative results in 80% of cases.
UNASSIGNED: Genetic interpretation in selected cases is important to understand the nature of the disease better. Improvement in testing opportunity and awareness might increase the prevalence of genetically explained diabetes cases. The distribution of subtypes differs between countries and even regions of the same country.
摘要：
■糖尿病是一种慢性疾病，具有复杂的发病背景，包括单基因，多基因，和环境原因。
■本文的目的是分享与大型儿科糖尿病队列的遗传和临床数据相关的信息。
本研究回顾性分析了18岁以下被诊断患有糖尿病的受试者的遗传和临床表现，并在儿科糖尿病转诊中心进行随访。
■自2007年以来，在1205例糖尿病儿童（902例接受胰岛素治疗）中，有246例接受了基于临床选择标准的基因检测。
■在其中的89个中发现了一百一十种与糖尿病相关的变体。报告年龄为9.5±4.02岁（F/M44/45）。在总共49个致病性和可能致病性中，根据美国医学遗传学学院开发的标准，在14个MODY和15个非MODY基因中发现了11个未知意义的“热和热”变异。发现了30种新的突变。GCK(26.6%)和ABCC8(10%)是两个最常受影响的基因。抗体检测显示80％的病例结果为阴性。
■选定病例的遗传解释对于更好地了解疾病的性质很重要。测试机会和意识的改善可能会增加遗传解释的糖尿病病例的患病率。亚型的分布在国家之间甚至在同一国家的地区之间是不同的。
■本文的目的是分享与大型儿科糖尿病队列的遗传和临床数据相关的信息。
本研究回顾性分析了18岁以下被诊断患有糖尿病的受试者的遗传和临床表现，并在儿科糖尿病转诊中心进行随访。
■自2007年以来，在1205例糖尿病儿童（902例接受胰岛素治疗）中，有246例接受了基于临床选择标准的基因检测。
■在其中的89个中发现了一百一十种与糖尿病相关的变体。报告年龄为9.5±4.02岁（F/M44/45）。在总共49个致病性和可能致病性中，根据美国医学遗传学学院开发的标准，在14个MODY和15个非MODY基因中发现了11个未知意义的“热和热”变异。发现了30种新的突变。GCK(26.6%)和ABCC8(10%)是两个最常受影响的基因。抗体检测显示80％的病例结果为阴性。
■选定病例的遗传解释对于更好地了解疾病的性质很重要。测试机会和意识的改善可能会增加遗传解释的糖尿病病例的患病率。亚型的分布在国家之间甚至在同一国家的地区之间是不同的。
