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目的对一个高度怀疑青少年发病的成年型糖尿病2型(MODY2),即葡萄糖激酶(GCK)基因突变所致MODY家系寻找基因突变位点,并探讨其临床特点。方法对1例意外发现血糖升高、无酮症倾向、有糖尿病家族史的10岁女孩采用芯片捕获高通量测序方法进行致病基因检测,发现其携带GCK基因突变,对其家系进行调查,收集家系成员相关临床资料并取得家系成员的外周血基因组DNA,使用Sanger测序技术对家系成员进行筛查。结果该家系的5名成员检测到GCK基因(NM_000162)第5号外显子c.485G>A(p.Gly162Asp)杂合错义突变,其中有4例为糖尿病患者,1例为IGR,该突变与糖尿病和IGR共分离,在白种人群中已有报道,在中国人群中为首次发现。结论 GCK基因突变c.485G>A是该MODY2家系的主要致病基因。
Objective To investigate the clinical features of MODY2, a type of MODY pedigree induced by mutation of glucokinase (GCK), in a highly suspected adolescent. Methods A 10-year-old girl who was found to have hyperglycemia and had no ketosis tendency and had a family history of diabetes mellitus was tested for pathogenicity by using chip capture high-throughput sequencing. The results showed that it carried the mutation of GCK gene and investigated its pedigree. The clinical data of family members were collected and peripheral blood genomic DNA was obtained from family members. Family members were screened using Sanger sequencing technology. Results Five members of this pedigree detected missense mutation of c.485G> A (p.Gly162Asp) in exon 5 of GCK gene (NM_000162), including 4 cases of diabetic patients and 1 case of IGR. Co-segregation with diabetes and IGR has been reported in the Caucasian population and first found in the Chinese population. Conclusion GCK gene mutation c.485G> A is the main pathogenic gene of this MODY2 pedigree.