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一些伴有短肢的软骨发育异常：分子视角

Some chondrodysplasias with short limbs: molecular perspectives.

作者信息

Cohen M Michael

机构信息

Department of Oral and Maxillofacial Sciences, Dalhousie University, Halifax, Nova Scotia, Canada.

出版信息

Am J Med Genet. 2002 Oct 15;112(3):304-13. doi: 10.1002/ajmg.10780.

DOI:10.1002/ajmg.10780
PMID:12357475
Abstract

A table of molecularly defined chondrodysplasias with short limbs is provided. Several are discussed in detail, including osteogenesis imperfecta and type I collagen mutations, Jansen metaphyseal chondrodysplasia and parathyroid hormone/parathyroid hormone-related protein receptor mutation, and chondrodysplasias caused by fibroblast growth factor receptor 3 mutations. The latter group includes achondroplasia, hypochondroplasia, thanatophoric dysplasia (types 1 and 2), San Diego platyspondylic dysplasia, and SADDAN.

摘要

本文提供了一份分子学定义的短肢性软骨发育不全的表格。详细讨论了其中几种疾病，包括成骨不全和I型胶原蛋白突变、詹森干骺端软骨发育不全和甲状旁腺激素/甲状旁腺激素相关蛋白受体突变，以及由成纤维细胞生长因子受体3突变引起的软骨发育不全。后一组包括软骨发育不全、低软骨发育不全、致死性骨发育不全（1型和2型）、圣地亚哥扁平脊椎发育不全和严重的致死性发育异常性侏儒症。

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Some chondrodysplasias with short limbs: molecular perspectives.一些伴有短肢的软骨发育异常：分子视角
Am J Med Genet. 2002 Oct 15;112(3):304-13. doi: 10.1002/ajmg.10780.
2
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.成纤维细胞生长因子受体3（FGFR 3）基因的常见突变导致软骨发育不全、软骨发育低下和致死性侏儒症。
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Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level.软骨发育不全、低软骨发育不全和致死性骨发育不良：临床上相关的骨骼发育不良，在分子水平上也存在关联。
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[Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia].FGFR3基因的突变会导致三种严重程度各异的侏儒症：软骨发育不全、致死性侏儒症和低软骨发育不全。
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Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data.成纤维细胞生长因子受体3（FGFR3）突变导致软骨发育不全、低软骨发育不全和致死性骨发育不良：台湾地区数据。
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A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.成纤维细胞生长因子受体3酪氨酸激酶结构域的复发性突变导致软骨发育不全。
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Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations.1型甲状旁腺激素受体/印度刺猬因子的表达在成纤维细胞生长因子受体3激活突变的人类胎儿生长板中得以保留。
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Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.导致软骨发育不全和致死性发育异常的突变对成纤维细胞生长因子受体3的分级激活。
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Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.两名具有软骨发育不全表型的患者中出现Ⅰ型致死性骨发育不全（R248C）和软骨发育低下（N540K）突变。
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[Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population].[西班牙人群中软骨发育不全和低软骨发育不全患者成纤维细胞生长因子受体3的Gly380Arg和Asn540Lys突变]
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