|本期目录/Table of Contents|

[1]刘 朔 综 述,郑荣秀 审 校.NPR2基因与矮小症关系的研究进展[J].天津医科大学学报,2020,26(01):86-90.
点击复制

NPR2基因与矮小症关系的研究进展(PDF)
分享到：

《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:
26卷
期数:
2020年01期
页码:
86-90
栏目:
综述
出版日期:
2020-04-06

文章信息/Info

Title:
-
文章编号:
1006-8147(2020)01-0086-05
作者:
刘 朔 综 述; 郑荣秀 审 校
（天津医科大学总医院儿科，天津300052）
Author(s):
-
关键词:
利钠肽B型受体基因; 肢端肢中发育不良; 特发性矮小; Léri-Weill综合征
Keywords:
-
分类号:
R725.8+R584.2+1
DOI:
-
文献标志码:
A
摘要:
随着基因诊断学的发展，矮小症相关基因不断被发现，近年来的研究发现利钠肽B型受体（NPR2)基因与矮小症的发病有密切关系，其基因的突变可能导致肢端肢中发育不良、特发性矮小、Léri-Weill综合征等疾病的发生。深入的了解该基因的结构、蛋白的表达及突变，有利于提高矮小症的遗传诊断水平，对明确矮小症病因及指导临床治疗具有重要意义。
Abstract:
-

参考文献/References:

[1] Blum W F, Alherbish A, Alsagheir A, et al. The growth hormone-insulin-like growth factor-I axis in the diagnosis and treatment of growth disorders[J]. Endocr Connect, 2018, 7（6）:R212
[2] Teran E, Chesner J, Rapaport R. Growth and growth hormone: An overview[J]. Growth Horm IGF Res, 2016, 28:3
[3] Vasques G A, Arnhold I J P, Jorge A A L. Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders[J]. Horm Res in Paediatr, 2014,82（4）:222
[4] Potter L R, Abbey-Hosch S, Dickey D M. Natriuretic Peptides, Their Receptors, and Cyclic Guanosine Monophosphate-Dependent Signaling Functions[J]. Endocr Rev, 2006, 27（1）:47
[5] Khan S, Basit S, Khan M A, et al. Genetics of human isolated acromesomelic dysplasia[J]. Eur J Med Genet, 2016,59（4）:198
[6] 郑丕媚. C型利钠肽和长骨生长[J]. 国际儿科学杂志,2010（5）:446
[7] Shuhaibar L C, Robinson J W, Vigone G, et al. Dephosphorylation of the NPR2 guanylyl cyclase contributes to inhibition of bone growth by fibroblast growth factor[J]. Elife, 2017, 6.pii: e31343. doi: 10.7554/ eLife.31343
[8] Schmidt H, Dickey D M, Dumoulin A, et al. Regulation of the Natriuretic Peptide Receptor 2 （Npr2） by Phosphorylation of Juxtamembrane Serine and Threonine Residues Is Essential for Bifurcation of Sensory Axons[J]. J Neurosci, 2018, 38（45）:9768
[9] Dickey D M, Edmund A B, Otto N M, et al. Catalytically Active Guanylyl Cyclase B Requires Endoplasmic Reticulum-mediated Glycosylation, and Mutations That Inhibit This Process Cause Dwarfism[J]. J Biol Chem, 2016,291（21）:11385
[10] 刘杰，王伟. C型钠尿肽及其受体B对软骨内骨生长作用的研究进展[J]. 国际儿科学杂志, 2009（2）:176
[11] Herman J P, Dolgas C M, Rucker D, et al. Localization of natriuretic peptide-activated guanylate cyclase mRNAs in the rat brain[J]. J Comp Neurol, 1996, 369（2）:165
[12] Langub M J, Dolgas C M, Watson R J, et al. The C-type natriuretic peptide receptor is the predominant natriuretic peptide receptor mRNA expressed in rat hypothalamus[J]. J Neuroendocrinol, 1995, 7（4）:305
[13] Potter L R, Abbey-Hosch S, Dickey D M. Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions[J]. Endocr Rev, 2006, 27（1）:47
[14] Kant S G, Polinkovsky A, Mundlos S, et al. Acromesomelic dysplasia Maroteaux type maps to human chromosome 9[J]. Am J Hum Genet, 1998, 63（1）:155
[15] Bartels C F, Bukulmez H, Padayatti P, et al. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux[J]. Am J Hum Genet, 2004, 75（1）:27
[16] Olney R C. C-type natriuretic peptide in growth: a new paradigm[J]. Growth Horm IGF Res, 2006, 16 （Suppl A）: S6
[17] Irfanullah, Umair M, Khan S, et al. Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type （AMDM） in consanguineous families[J]. Ann Hum Genet, 2015, 79（4）:238
[18] Srivastava P, Tuteja M, Dalal A, et al. Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux[J]. J Genet, 2016, 95（4）:905
[19] Lin W, Wang C, Tsai F. Identification of one novel homozygous mutation in the NPR2 gene in a patient from Taiwan with acromesomelic dysplasia Maroteaux type[J]. Pediatr Neonatol, 2018, 59（3）:322
[20] Ain N U, Iqbal M, Valta H, et al. Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux[J]. Eur J Med Genet, 2019，62（9）:103554. doi: 10.1016/j.ejmg. 2018.10.006
[21] Khan S, Ali R H, Abbasi S, et al. Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux[J]. BMC Med Genet, 2012, 13:44
[22] Vasques G A, Amano N, Docko A J, et al. Heterozygous Mutations in Natriuretic Peptide Receptor-B （NPR2 ） Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature[J]. J Clin Endocrinol Metab, 2013, 98（10）:E1636
[23] Amano N, Mukai T, Ito Y, et al. Identification and Functional Characterization of Two Novel NPR2 Mutations in Japanese Patients With Short Stature[J]. J Clin Endocrinol Metab, 2014, 99（4）:E713
[24] Wang S R, Jacobsen C M, Carmichael H, et al. Heterozygous Mutations in Natriuretic Peptide Receptor-B （NPR2 ） Gene as a Cause of Short Stature[J]. Human Mutation, 2015, 36（4）:474
[25] Hattori A, Katoh-Fukui Y, Nakamura A, et al. Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature[J]. Endocr J, 2017, 64（10）:947
[26] Huber C, Rosilio M, Munnich A, et al. High incidence of SHOX anomalies in individuals with short stature[J]. J Med Genet, 2006, 43（9）:735
[27] Benito-Sanz S, Del B D, Aza-Carmona M, et al. PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Leri-Weill dyschondrosteosis（LWD）probands[J]. Hum Mutat, 2006, 27（10）:1062
[28] Chen J, Wildhardt G, Zhong Z, et al. Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain[J]. J Med Genet, 2009, 46（12）:834
[29] Hisado-Oliva A, Garre-Vázquez A I, Santaolalla-Caballero F, et al. Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis[J]. J Clin Endocrinol Metab, 2015, 100（8）:E1133
[30] Im M, Kim Y D, Han H S. Effect of growth hormone treatment on children with idiopathic short stature and idiopathic growth hormone deficiency[J]. Ann Pediatr Endocrinol Metab, 2017, 22（2）:119
[31] Sotos J F, Tokar N J. Growth hormone significantly increases the adult height of children with idiopathic short stature: comparison of subgroups and benefit[J]. Int J Pediatr Endocrinol, 2014, 2014（1）:15
[32] Jacob M, Menon S, Botti C, et al. Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia[J]. Case Rep Endocrinol, 2018, 2018:7658496
[33] 李海丰，俞光荣.软骨发育不全[J].国外医学（骨科学分册）,2003,24（3）:167
[34] Miura K, Namba N, Fujiwara M, et al. An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene[J]. PLoS One, 2012, 7（8）:e42180
[35] Hannema S E, van Duyvenvoorde H A, Premsler T, et al. An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities[J]. J Clin Endocrinol Metab, 2013, 98（12）:E1988
[36] Miura K, Kim O H, Lee H R, et al. Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 （NPR2） gene[J]. Am J Med Genet A, 2014, 164A（1）:156
[37] Kang M J. Novel genetic cause of idiopathic short stature[J]. Ann Pediatr Endocrinol Metab, 2017, 22（3）:153
[38] Shima H, Ishii A, Wada Y, et al. SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism[J]. Endocr J, 2017, 64（8）:813

相似文献/References:

备注/Memo

备注/Memo:
基金项目 国家重点研发计划重大项目资助（2016YFC1305301）
作者简介 刘朔（1992-），男，硕士在读，研究方向：儿科；通信作者：郑荣秀，E-mail: rzheng@tmu.edu.cn。
更新日期/Last Update: 2020-04-16