[1]周希 杨治芳.1例假性甲状旁腺功能减退症与GNAS基因突变[J].国际内分泌代谢杂志,2020,40(01):67-72.[doi:10.3760/cma.j.issn.1673-4157.2020.01.016]
 Zhou Xi,Yang Zhifang.One case of pseudohypoparathyroidism and GNAS gene mutation[J].International Journal of Endocrinology and Metabolism,2020,40(01):67-72.[doi:10.3760/cma.j.issn.1673-4157.2020.01.016]
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1例假性甲状旁腺功能减退症与GNAS基因突变()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
40
期数:
2020年01期
页码:
67-72
栏目:
病例报告
出版日期:
2020-01-20

文章信息/Info

Title:
One case of pseudohypoparathyroidism and GNAS gene mutation
作者:
周希 杨治芳
Author(s):
Zhou Xi Yang Zhifang
Department of Endocrinology, The First Affiliated Hospital of Nanchang University, Nanchang 330006, China
DOI:
10.3760/cma.j.issn.1673-4157.2020.01.016

参考文献/References:

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[2] Lemos MC,Thakker RV.GNAS mutations in pseudohypoparathyroidism type 1a and related disorders[J].Hum Mutat,2015,36(1):11-19.DOI:10.1002/humu.22696.
[3] Long XD,Xiong J,Mo ZH,et al.Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia[J].BMC Med Genet,2018,19(1):132.DOI:10.1186/s12881-018-0648-z.
[4] Hanna P,Grybek V,Perez de Nanclares G,et al.Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity[J].J Bone Miner Res,2018,33(8):1480-1488.DOI:10.1002/jbmr.3450.
[5] Mantovani G,Bastepe M,Monk D,et al.Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement[J].Nat Rev Endocrinol,2018,14(8):476-500.DOI:10.1038/s41574-018-0042-0.
[6] Mantovani G,Elli FM.Multiple hormone resistance and alterations of G-protein-coupled receptors signaling[J].Best Pract Res Clin Endocrinol Metab,2018,32(2):141-154.DOI:10.1016/j.beem.2018.01.002.
[7] Mantovani G,Spada A.Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy[J].J Pediatr Endocrinol Metab,2006,19(Suppl 2):663-670.DOI:10.1515/jpem.2006.19.s2.663.
[8] Kayemba-Kay's S,Tripon C,Heron A,et al.Pseudohypoparathyroidism type 1A-subclinical hypothyroidism and rapid weight gain as early clinical signs: a clinical review of 10 cases[J].J Clin Res Pediatr Endocrinol,2016,8(4):432-438. DOI:10.4274/jcrpe.2743.
[9] Fernandez-Rebollo E,Barrio R,Pérez-Nanclares G,et al.New mutation type in pseudohypoparathyroidism type Ia[J].Clin Endocrinol(Oxf),2008,69(5):705-712. DOI:10.1111/j.1365-2265.2008.03255.x.
[10] Balavoine AS,Ladsous M,Velayoudom FL,et al.Hypothyroidism in patients with pseudohypoparathyroidism type Ⅰa: clinical evidence of resistance to TSH and TRH[J].Eur J Endocrinol,2008,159(4):431-437.DOI:10.1530/EJE-08-0111.
[11] Vanderpump MP,Tunbridge WM,French JM,et al.The incidence of thyroid disorders in the community: a twenty-year follow-up of the Whickham Survey[J].Clin Endocrinol(Oxf),1995,43(1):55-68.DOI:10.1111/j.1365-2265.1995.tb01894.x.
[12] Mantovani G,Spada A.Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy[J].J Pediatr Endocrinol Metab,2006,19(Suppl 2):663-670.DOI:10.1515/jpem.2006.19.s2.663.
[13] Elli FM,Linglart A, Garin I,et al. The prevalence of GNAS deficiency-related diseases in a large cohort of patients characterizedby the EuroPHP network[J].J Clin Endocrinol Metab,2016,101(10):3657-3668.DOI:10.1210/jc.2015-4310.
[14] Yu S,Yu D,Hainline BE,et al.A deletion hot-spot in exon 7 of the Gs alpha gene(GNAS1)in patients with Albright hereditary osteodystrophy[J].Hum Mol Genet,1995,4(10):2001-2002.DOI:10.1093/hmg/4.10.2001.
[15] Rickard SJ,Wilson LC. Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA[J].Am J Hum Genet,2003,72(4):961-974.DOI:10.1086/374566.

备注/Memo

备注/Memo:
南昌大学第一附属医院内分泌科 330006 通信作者:杨治芳,Email:yzf1977728@hotmail.com
Corresponding author: Yang Zhifang, Email:yzf1977728@hotmail.com
更新日期/Last Update: 2020-01-20