一个新的肝细胞核因子1α仪基因突变致青少年的成人起病型糖尿病3型家系报道

A novel hepatocyte nuclear factor-lα genetic mutation in a Chinese pedigree with maturity-onsetdiabetes of the young type 3

目的探讨一个青少年的成人起病型糖尿病（MODY）家系的致病基因。方法对一例发病9年的32岁女性糖尿病患者家系成员进行调查，该家系中有两代糖尿病患者，采用目标区域捕获高深度测序技术在先证者中找到突变基因，使用Sanger测序技术验证突变位点并筛查其他家系成员。结果基因检测发现家系中3个个体携带肝细胞核因子1仅（HNF·1α）基因V380Cfs。39移码突变，该突变在家系中表现为与糖尿病共分离。结论该家系为一个新的HNF-1α仅基因突变所致MODY3家系。

Objective To determine the genetic basis of maturity-onset diabetes of the young in a Chinese pedigree. Methods A 32 years old female patient was noticed that there were two generations of the family with diabetes. The pathogenic gene in the proband was identified by target area capture deep sequencing, and then was verified and screened the genetic mutation in the proband and other family members by Sanger sequencing. Results A new heterozygous frameshift mutation in hepatocyte nuclear factor-lα（HFN-lα） located in the exon 6 （ c. ll30-1131insC; p. V380Cfs ＊ 39） was identified. The mutation was co-segregated with diabetes. Conclusion A novel HNF-lα genetic mutation in a Chinese pedigree with MODY3 is found.