Objective:To investigate the clinical and molecular genetic characteristics of Chinese adolescents with maturity-onset diabetes of the young type 2(MODY 2)and the safety and efficacy of recombinant human growth hormon...Objective:To investigate the clinical and molecular genetic characteristics of Chinese adolescents with maturity-onset diabetes of the young type 2(MODY 2)and the safety and efficacy of recombinant human growth hormone(r-hGH).Methods:The clinical features and laboratory data of a family with MODY 2 combined with partial growth hormone deficiency(pGHD),diagnosed at the Fourth Clinical Medical College of Xinjiang Medical University,were analyzed.DNA was extracted from peripheral blood using the column method,and Sanger sequencing was conducted to analyze the glucokinase(GCK),hepatocyte nuclear factor 1α(HNF1α),and hepatocyte nuclear factor 4α(HNF4α)in the proband and relevant family members.Results:A heterozygous mutation in GCK(Reference sequence:NM_000162,location:Exon 10)c.1340G>A(p.R447Q)was detected in three family members(the proband,the proband’s younger brother,and their mother).The proband also had pGHD.Conclusion:GCK mutations causing MODY 2 exist in the Chinese population,and the combined treatment with r-hGH is safe and effective.展开更多
目的报道1例中国人葡萄糖激酶(glucokinase,GCK)新发基因突变导致青少年起病的成人型糖尿病2型(maturity-onset diabetes of the young,type 2,MODY2)家系,分析其遗传学特征及临床特点。方法对1例MODY2家系行基因测序、临床资料采集及...目的报道1例中国人葡萄糖激酶(glucokinase,GCK)新发基因突变导致青少年起病的成人型糖尿病2型(maturity-onset diabetes of the young,type 2,MODY2)家系,分析其遗传学特征及临床特点。方法对1例MODY2家系行基因测序、临床资料采集及分析。结果调查此家系成员共18人,其中先证者及其弟、父亲、叔父、堂弟等父系成员11人罹患糖尿病;先证者及其弟、父亲、叔父均存在GCK基因杂合同义突变(exon1:c.45G>A:p.K15K),生物信息学功能预测提示该突变可能影响mRNA剪接而致GCK功能受损,国内研究人群尚未见此突变报道;先证者及其弟糖化血红蛋白分别为6.49%、6.72%,空腹血糖分别为6.80、7.01 mmol/L,糖尿病自身抗体谱均为阴性,6~18个月随访示血糖水平保持稳定。结论此MODY2家系中GCK基因杂合同义突变(exon1:c.45G>A:p.K15K)为中国人新发突变位点,其临床表现为轻度、持续稳定的空腹高血糖及糖化血红蛋白升高,不应低估GCK基因同义突变的致病性。展开更多
青少年的成人起病型糖尿病（Maturityonset diabetes of the youm,MODY）,已被证实为单基因遗传突变引起的糖尿病,其突变基因具有遗传异质性,属于一种非胰岛素依赖的早发型糖尿病,呈常染色体显性遗传,是单基因糖尿病中常见的一型。MODY...青少年的成人起病型糖尿病（Maturityonset diabetes of the youm,MODY）,已被证实为单基因遗传突变引起的糖尿病,其突变基因具有遗传异质性,属于一种非胰岛素依赖的早发型糖尿病,呈常染色体显性遗传,是单基因糖尿病中常见的一型。MODY数十年前已被人们关注在应用胰岛素以前,展开更多
文摘Objective:To investigate the clinical and molecular genetic characteristics of Chinese adolescents with maturity-onset diabetes of the young type 2(MODY 2)and the safety and efficacy of recombinant human growth hormone(r-hGH).Methods:The clinical features and laboratory data of a family with MODY 2 combined with partial growth hormone deficiency(pGHD),diagnosed at the Fourth Clinical Medical College of Xinjiang Medical University,were analyzed.DNA was extracted from peripheral blood using the column method,and Sanger sequencing was conducted to analyze the glucokinase(GCK),hepatocyte nuclear factor 1α(HNF1α),and hepatocyte nuclear factor 4α(HNF4α)in the proband and relevant family members.Results:A heterozygous mutation in GCK(Reference sequence:NM_000162,location:Exon 10)c.1340G>A(p.R447Q)was detected in three family members(the proband,the proband’s younger brother,and their mother).The proband also had pGHD.Conclusion:GCK mutations causing MODY 2 exist in the Chinese population,and the combined treatment with r-hGH is safe and effective.
文摘目的报道1例中国人葡萄糖激酶(glucokinase,GCK)新发基因突变导致青少年起病的成人型糖尿病2型(maturity-onset diabetes of the young,type 2,MODY2)家系,分析其遗传学特征及临床特点。方法对1例MODY2家系行基因测序、临床资料采集及分析。结果调查此家系成员共18人,其中先证者及其弟、父亲、叔父、堂弟等父系成员11人罹患糖尿病;先证者及其弟、父亲、叔父均存在GCK基因杂合同义突变(exon1:c.45G>A:p.K15K),生物信息学功能预测提示该突变可能影响mRNA剪接而致GCK功能受损,国内研究人群尚未见此突变报道;先证者及其弟糖化血红蛋白分别为6.49%、6.72%,空腹血糖分别为6.80、7.01 mmol/L,糖尿病自身抗体谱均为阴性,6~18个月随访示血糖水平保持稳定。结论此MODY2家系中GCK基因杂合同义突变(exon1:c.45G>A:p.K15K)为中国人新发突变位点,其临床表现为轻度、持续稳定的空腹高血糖及糖化血红蛋白升高,不应低估GCK基因同义突变的致病性。
文摘青少年的成人起病型糖尿病（Maturityonset diabetes of the youm,MODY）,已被证实为单基因遗传突变引起的糖尿病,其突变基因具有遗传异质性,属于一种非胰岛素依赖的早发型糖尿病,呈常染色体显性遗传,是单基因糖尿病中常见的一型。MODY数十年前已被人们关注在应用胰岛素以前,
