新发突变基因致青少年发病的成人型糖尿病6型(MODY6)1例报告
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摘要
<正>青少年发病的成人型糖尿病(maturity-onsetdiabetes of the young,MODY)是一种常染色体显性遗传的单基因遗传病。迄今为止,已发现有数十种MODY突变基因。根据致病基因分14种亚型~([1])。MODY6型是其中较为罕见的类型。2016年8月浙江大学医学院附属儿童医院内分泌科收治1例MODY6型患儿,基因测序发现有1个新发的基因突变,目前国内外尚未见该突变位点报道,现报告如下。
引文
[1]Flannick J,Johansson S,Njolstad PR.Common and rare forms of diabetes mellitus:towards a continuum of diabetes subtypes[J].Nat Rev Endocrinol,2016,12(7):394-406.
[2]Anik A,Catli G,Abaci A,et al.Maturity-onset diabetes of the young(MODY):an update[J].J Pediatr Endocrinol Metab,2015,28(3-4):251-263.
[3]Iwata I,Nagafuchi S,Nakashima H,et al.Association of polymorphism in the NeuroD/BETA2 gene with type 1 diabetes in the Japanese[J].Diabetes,1999,48(2):416-419.
[4]Gonsorcikova L,Pruhova S,Cinek O,et al.Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1[J].Pediatr Diabetes,2008,9(4 Pt 2):367-372.
[5]Szopa M,Ludwig-Galezowska AH,Radkowski P,et al.A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing-clinical characteristics of mutation carriers[J].Eur J Med Genet,2016,59(2):75-79.
[6]Gu C,Stein GH,Pan N,et al.Pancreatic beta cells require Neuro Dto achieve and maintain functional maturity[J].Cell Metab,2010,11(4):298-310.
[7]Siddiqui K,Musambil M,Nazir N.Maturity onset diabetes of the young(MODY)--history,first case reports and recent advances[J].Gene,2015,555(1):66-71.
[8]Rubio-Cabezas O,Hattersley AT,Njolstad PR,et al.ISPADclinical practice consensus guidelines 2014.The diagnosis and management of monogenic diabetes in children and adolescents[J].Pediatr Diabetes,2014,15(Suppl 20):47-64.
[9]Amed S,Oram R.Maturity-onset diabetes of the young(MODY):Making the right diagnosis to optimize treatment[J].Can J Diabetes,2016,40(5):449-454.
[10]Shields BM,Mcdonald TJ,Ellard S,et al.The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes[J].Diabetologia,2012,55(5):1265-1272.
[11]Raile K,Schober E,Konrad K,et al.Treatment of young patients with HNF1A mutations(HNF1A-MODY)[J].Diabet Med,2015,32(4):526-530.
[12]Horikawa Y,Enya M,Mabe H,et al.NEUROD1-deficient diabetes(MODY6):Identification of the first cases in Japanese and the clinical features[J].Pediatr Diabetes,2018,19(2):236-242.
[13]Liu L,Furuta H,Minami A,et al.A novel mutation,Ser159Pro in the NeuroD1/BETA2 gene contributes to the development of diabetes in a Chinese potential MODY family[J].Mol Cell Biochem,2007,303(1-2):115-120.
[14]Johansson BB,Irgens HU,Molnes J,et al.Targeted next-generation sequencing reveals MODY in up to 6.5%of antibodynegative diabetes cases listed in the Norwegian Childhood Diabetes Registry[J].Diabetologia,2017,60(4):625-635.
[15]杨慧霞,魏玉梅.大数据时代下的妊娠合并糖尿病研究[J].中国实用妇科与产科杂志,2018,34(1):30-32.
[16]王昊,漆洪波.美国妇产科医师学会:“妊娠期糖尿病指南(2017)”要点解读[J].中国实用妇科与产科杂志,2018,34(1):62-66.
[17]Kleinberger JW,Maloney KA,Pollin TI.The genetic architecture of diabetes in pregnancy:Implications for clinical practice[J].Am J Perinatol,2016,33(13):1319-1326.
[18]Owen KR.Monogenic diabetes in adults:what are the new developments?[J].Curr Opin Genet Dev,2018,50:103-110.
[2]Anik A,Catli G,Abaci A,et al.Maturity-onset diabetes of the young(MODY):an update[J].J Pediatr Endocrinol Metab,2015,28(3-4):251-263.
[3]Iwata I,Nagafuchi S,Nakashima H,et al.Association of polymorphism in the NeuroD/BETA2 gene with type 1 diabetes in the Japanese[J].Diabetes,1999,48(2):416-419.
[4]Gonsorcikova L,Pruhova S,Cinek O,et al.Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1[J].Pediatr Diabetes,2008,9(4 Pt 2):367-372.
[5]Szopa M,Ludwig-Galezowska AH,Radkowski P,et al.A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing-clinical characteristics of mutation carriers[J].Eur J Med Genet,2016,59(2):75-79.
[6]Gu C,Stein GH,Pan N,et al.Pancreatic beta cells require Neuro Dto achieve and maintain functional maturity[J].Cell Metab,2010,11(4):298-310.
[7]Siddiqui K,Musambil M,Nazir N.Maturity onset diabetes of the young(MODY)--history,first case reports and recent advances[J].Gene,2015,555(1):66-71.
[8]Rubio-Cabezas O,Hattersley AT,Njolstad PR,et al.ISPADclinical practice consensus guidelines 2014.The diagnosis and management of monogenic diabetes in children and adolescents[J].Pediatr Diabetes,2014,15(Suppl 20):47-64.
[9]Amed S,Oram R.Maturity-onset diabetes of the young(MODY):Making the right diagnosis to optimize treatment[J].Can J Diabetes,2016,40(5):449-454.
[10]Shields BM,Mcdonald TJ,Ellard S,et al.The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes[J].Diabetologia,2012,55(5):1265-1272.
[11]Raile K,Schober E,Konrad K,et al.Treatment of young patients with HNF1A mutations(HNF1A-MODY)[J].Diabet Med,2015,32(4):526-530.
[12]Horikawa Y,Enya M,Mabe H,et al.NEUROD1-deficient diabetes(MODY6):Identification of the first cases in Japanese and the clinical features[J].Pediatr Diabetes,2018,19(2):236-242.
[13]Liu L,Furuta H,Minami A,et al.A novel mutation,Ser159Pro in the NeuroD1/BETA2 gene contributes to the development of diabetes in a Chinese potential MODY family[J].Mol Cell Biochem,2007,303(1-2):115-120.
[14]Johansson BB,Irgens HU,Molnes J,et al.Targeted next-generation sequencing reveals MODY in up to 6.5%of antibodynegative diabetes cases listed in the Norwegian Childhood Diabetes Registry[J].Diabetologia,2017,60(4):625-635.
[15]杨慧霞,魏玉梅.大数据时代下的妊娠合并糖尿病研究[J].中国实用妇科与产科杂志,2018,34(1):30-32.
[16]王昊,漆洪波.美国妇产科医师学会:“妊娠期糖尿病指南(2017)”要点解读[J].中国实用妇科与产科杂志,2018,34(1):62-66.
[17]Kleinberger JW,Maloney KA,Pollin TI.The genetic architecture of diabetes in pregnancy:Implications for clinical practice[J].Am J Perinatol,2016,33(13):1319-1326.
[18]Owen KR.Monogenic diabetes in adults:what are the new developments?[J].Curr Opin Genet Dev,2018,50:103-110.