|本期目录/Table of Contents|

[1]刘蕊蕊,马士凤,刘笑孝,等.1例COMP基因突变所致假性软骨发育不全病例报告[J].天津医科大学学报,2022,28(05):555-559.
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1例COMP基因突变所致假性软骨发育不全病例报告(PDF)
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《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:
28卷
期数:
2022年05期
页码:
555-559
栏目:
病例报告
出版日期:
2022-09-20

文章信息/Info

Title:
-
文章编号:
1006-8147(2022)05-0555-05
作者:
刘蕊蕊; 马士凤; 刘笑孝; 周娜; 余俐璇; 盛斯涵; 郑荣秀
（天津医科大学总医院儿科，天津 300052）
Author(s):
-
关键词:
假性软骨发育不全; 软骨寡聚物基质蛋白; 短肢矮小
Keywords:
-
分类号:
R725.8
DOI:
-
文献标志码:
B
摘要:
-
Abstract:
-

参考文献/References:

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[2] BURGER A，ROOSENBOOM J，HOSSAIN M，et al.Mutant COMP shapes growth and development of skull and facial structures in mice and humans[J]. Mol Genet Genomic Med，2020，8（7）：e1251.
[3] WEINER D S，GUIRGUIS J，MAKOWSKI M，et al.Orthopaedic manifestations of pseudoachondroplasia[J].J Child Orthop，2019，13（4）：409-416.
[4] POSEY K L，ALCORN J L，HECHT J T. Pseudoachondroplasia/COMP-translating from the bench to the bedside[J]. Matrix Biol，2014，37：167-173.
[5] HECHT J T，HAYES E，HAYNES R，et al. COMP mutations，chondrocyte function and cartilage matrix[J]. Matrix Biol，2005，23（8）：525-533.
[6] BRIGGS M D，CHAPMAN K L. Pseudoachondroplasia and multiple epiphyseal dysplasia：mutation review，molecular interactions，and genotype to phenotype correlations[J]. Hum Mutat，2002，19（5）：465-478.
[7] WANG C H，LIN W D，TSAI A，et al. Novel human pathological mutations.Gene symbol：COMP.Disease：pseudoachondroplasia[J]. Hum Genet，2009，125（3）：350.
[8] DINSER R，ZAUCKE F，KREPPEL F，et al. Pseudoachondroplasia is caused through both intra-and extracellular pathogenic pathways[J]. J Clin Invest，2002，110（4）：505-513.
[9] NEWTON G，WEREMOWICZ S，MORTON C C，et al. Characterization of human and mouse cartilage oligomeric matrix protein[J]. Genomics，1994 ，24（3）：435-439.
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[12] PIR?譫G K A，JAKA O，KATAKURA Y，et al . A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia[J]. Hum Mol Genet，2010，19（1）：52-64.
[13] POSEY K L，COUSTRY F，VEERISETTY A C，et al. Chop （Ddit3） is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia[J]. Am J Pathol ，2012 ，180（2）：727-737.
[14] MERRITT T M，BICK R，POINDEXTER B J，et al. Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes[J]. Am J Pathol，2007，170（1）：293-300.
[15] HECHT J T，MAKITIE O，HAYES E，et al. Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate[J]. J Orthop Res，2004，22（4）：759-767.
[16] SCHMITZ M，BECKER A，SCHMITZ A，et al. Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion[J]. J Biol Chem，2006，281（43）：32587-32595.
[17] PIR?譫G-GARCIA K A，MEADOWS R S，KNOWLES L，et al. Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP[J]. Hum Mol Genet，2007，16（17）：2072-2088.
[18] POSEY K L，COUSTRY F，VEERISETTY A C，et al. Antisense reduction of mutant COMP reduces growth plate chondrocyte pathology[J]. Mol Ther，2017 ，25（3）：705-714.
[19] BUDDE B，BLUMBACH K，YLSTALO J，et al. Altered integration of matrilin-3 into cartilage extracellular matrix in the absence of collagen IX[J]. Mol Cell Biol，2005 ，25（23）：10465-10478.
[20] ROSENBERG K，OLSSON H，M?魻RGELIN M，et al. Cartilage oligomeric matrix protein shows high affinity zinc-dependent interaction with triple helical collagen[J]. J Biol Chem，1998，273（32）：20397-20403.
[21] ICHIHASHI Y，TAKAGI M，ISHII T，et al. Two novel mutations of COMP in Japanese boys with pseudoachondroplasia[J]. Hum Genome Var，2018，5：12.
[22] BRIGGS M D，BROCK J，RAMSDEN S C，et al . Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias[J]. Eur J Hum Genet，2014，22（11）：1278-1282.
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[24] ANILKUMAR N，ANNIS D S，MOSHER D F，et al. Trimeric assembly of the C-terminal region of thrombospondin-1 or thrombospondin-2 is necessary for cell spreading and fascin spike organisation[J]. J Cell Sci，2002，115（Pt 11）：2357-2366.
[25] UNGER S，HECHT J T. Pseudoachondroplasia and multiple epiphyseal dysplasia：New etiologic developments[J]. Am J Med Genet，2001，106（4）：244-250.
[26] MCKEAND J，ROTTA J，HECHT J T. Natural history study ofpseudoachondroplasia[J]. Am J Med Genet，1996 ，63（2）：406-410.
[27] EL-LABABIDI N，ZIK?魣NOV?魣 M，BAXOV?魣 A，et al. Age dependent progression of multiple epiphyseal dysplasia and pseudoachondroplasia due to heterozygous mutations in COMP gene[J]. Prague Med Rep，2020，121（3）：153-162.
[28] POSEY K L，HECHT J T. The role of cartilage oligomeric matrix protein（COMP） in skeletal disease[J]. Curr Drug Targets，2008，9（10）：869-877.
[29] KENNEDY J，JACKSON G C，BARKER F S，et al. Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group[J]. Hum Mutat，2005，25（6）：593-594.
[30] KANAZAWA H，TANAKA H，INOUE M，et al. Efficacy of growth hormone therapy for patients with skeletal dysplasia[J]. J Bone Miner Metab，2003，21（5）：307-310.

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备注/Memo

备注/Memo:
基金项目 天津市医学重点学科（专科）建设项目资助；天津市环境营养与人群健康重点实验室开放项目（2020ENKL05）
作者简介 刘蕊蕊（1997-），女，硕士在读，研究方向：儿科学；通信作者：郑荣秀，E-mail：rzheng@tmu.edu.cn。
更新日期/Last Update: 2022-09-20