2个非血缘关系家系的3例CPHD的PROP1基因缺失研究
摘要
<正>垂体激素缺乏症(combined pituitary hormone deficiency,CPHD)在临床主要是由于外伤、严重缺氧、手术期间损伤以及慢性疾病所造成的垂体活性抑制性疾病~([1])。从生物学角度分析~([2]),人体的垂体组织是由口腔顶部外胚层发育而来,一般在患者的胚胎发育第9天,形成垂体基板,同时随着口腔外胚层
引文
[1]程世奇,范恒怡,祝新根,等.多亮氨酸重复区免疫球蛋白样蛋白1基因表达对体外垂体瘤细胞株RC-4B/C生物学功能的影响[J].中华实验外科杂志,2016,33(2):392-396.
[2]姜宇,周仁华,曾水林,等.垂体同源盒家族因子3和孤儿核受体相关因子1基因在帕金森病模型大鼠腹侧中脑表达显著下调[J].神经解剖学杂志,2016,32(2):257-261.
[3]滕晓春,金婷,王冉冉,等.一例TRβ基因P453T突变所致的甲状腺激素抵抗综合征合并垂体TSH微腺瘤的病例报告[J].中华内分泌代谢杂志,2016,32(1):19-23.
[4]王翼.2个家系的PROP1基因缺失研究[D].上海交通大学,2008.
[5]衡文娜,郭春华,张晓晖,等.PROP1与联合垂体激素缺乏症[J].生物学杂志,2007,24(2):1-4.
[6]韩白玉,李乐乐,王成芷,等.垂体柄中断综合征与前动力蛋白受体2和前动力蛋白2基因突变的相关性分析[J].中国医学科学院学报,2016,38(1):37-41.
[7]Osorio MG,Kopp P,Marui S,et al.Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue(F88S)in the homeodomain of PROP-1[J].Journal of Clinical Endocrinology&Metabolism,2000,85(8):2779-2785.
[8]Birla S,Khadgawat R,Jyotsna V,et al.Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency[J].Hormone&Metabolic Research,2016,48(12):822-827.
[9]Ziemnicka K,Budny B,Drobnik K,et al.Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency[J].Journal of Applied Genetics,2016,57(3):373-381.
[10]Dusatkova P,Pf?ffle R,Brown MR,et al.Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations[J].European Journal of Human Genetics Ejhg,2016,24(3):415.
[11]Chaudhary DP,Rijal T,Jha KK,et al.PROP1 gene mutations in a 36-year-old female presenting with psychosis[J].Endocrinol Diabetes Metab Case Rep,2017,2017(1):16-96.
[12]Madeira JL,Nishi MY,Nakaguma M,et al.Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations[J].Clinical Endocrinology,2017,87(6):725-732.
[13]Giordano M.Genetic causes of isolated and combined pituitary hormone deficiency[J].Best Practice&Research Clinical Endocrinology&Metabolism,2016,30(6):679.
[14]Rienzo FD,Mellone S,Bellone S,et al.Frequency of genetic defects in Combined Pituitary Hormone Deficiency:a systematic review and analysis of a multicentre Italian cohort[J].Clinical Endocrinology,2016,83(6):849-860.
[2]姜宇,周仁华,曾水林,等.垂体同源盒家族因子3和孤儿核受体相关因子1基因在帕金森病模型大鼠腹侧中脑表达显著下调[J].神经解剖学杂志,2016,32(2):257-261.
[3]滕晓春,金婷,王冉冉,等.一例TRβ基因P453T突变所致的甲状腺激素抵抗综合征合并垂体TSH微腺瘤的病例报告[J].中华内分泌代谢杂志,2016,32(1):19-23.
[4]王翼.2个家系的PROP1基因缺失研究[D].上海交通大学,2008.
[5]衡文娜,郭春华,张晓晖,等.PROP1与联合垂体激素缺乏症[J].生物学杂志,2007,24(2):1-4.
[6]韩白玉,李乐乐,王成芷,等.垂体柄中断综合征与前动力蛋白受体2和前动力蛋白2基因突变的相关性分析[J].中国医学科学院学报,2016,38(1):37-41.
[7]Osorio MG,Kopp P,Marui S,et al.Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue(F88S)in the homeodomain of PROP-1[J].Journal of Clinical Endocrinology&Metabolism,2000,85(8):2779-2785.
[8]Birla S,Khadgawat R,Jyotsna V,et al.Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency[J].Hormone&Metabolic Research,2016,48(12):822-827.
[9]Ziemnicka K,Budny B,Drobnik K,et al.Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency[J].Journal of Applied Genetics,2016,57(3):373-381.
[10]Dusatkova P,Pf?ffle R,Brown MR,et al.Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations[J].European Journal of Human Genetics Ejhg,2016,24(3):415.
[11]Chaudhary DP,Rijal T,Jha KK,et al.PROP1 gene mutations in a 36-year-old female presenting with psychosis[J].Endocrinol Diabetes Metab Case Rep,2017,2017(1):16-96.
[12]Madeira JL,Nishi MY,Nakaguma M,et al.Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations[J].Clinical Endocrinology,2017,87(6):725-732.
[13]Giordano M.Genetic causes of isolated and combined pituitary hormone deficiency[J].Best Practice&Research Clinical Endocrinology&Metabolism,2016,30(6):679.
[14]Rienzo FD,Mellone S,Bellone S,et al.Frequency of genetic defects in Combined Pituitary Hormone Deficiency:a systematic review and analysis of a multicentre Italian cohort[J].Clinical Endocrinology,2016,83(6):849-860.