Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13.
作者信息
Walker Linda C, Ju Elizabeth M, Yeowell Heather N
机构信息
Department of Dermatology, Duke University Medical Center, Durham, North Carolina, USA.
出版信息
Am J Med Genet A. 2011 Aug;155A(8):2011-4. doi: 10.1002/ajmg.a.34064. Epub 2011 Jul 7.
Abstract
摘要
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Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13.对12例患有ⅥB型埃勒斯-当洛综合征表型的患者进行的突变分析显示，其与锌转运蛋白基因SLC39A13无连锁关系。
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本文引用的文献
1
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.肌肉骨骼型先天性弹性组织松解症（原 EDS 型 VIB）和内收拇指足畸形综合征（ATCS）是由编码 CHST14 基因的硫酸皮肤素-4-硫酸转移酶 1 突变引起的单一临床实体。
Hum Mutat. 2010 Nov;31(11):1233-9. doi: 10.1002/humu.21355.
2
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.CHST14 基因无功能突变导致的一种新型埃勒斯-当洛斯综合征。
Hum Mutat. 2010 Aug;31(8):966-74. doi: 10.1002/humu.21300.
3
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.一种具有颅面特征、多发先天性挛缩、进行性关节和皮肤松弛以及多系统脆弱性相关表现的新型埃勒斯-当洛斯综合征。
Am J Med Genet A. 2010 Jun;152A(6):1333-46. doi: 10.1002/ajmg.a.33498.
4
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.缺乏 dermatan-4-硫酸转移酶 1 功能可导致并指（趾）-爪形手综合征。
Am J Hum Genet. 2009 Dec;85(6):873-82. doi: 10.1016/j.ajhg.2009.11.010.
5
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.锌转运蛋白SLC39A13/ZIP13是结缔组织发育所必需的；它参与骨形态发生蛋白/转化生长因子-β信号通路。
PLoS One. 2008;3(11):e3642. doi: 10.1371/journal.pone.0003642. Epub 2008 Nov 5.
6
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.埃勒斯-当洛综合征的脊椎手发育不良型——一种由锌转运蛋白基因SLC39A13突变引起的常染色体隐性遗传病。
Am J Hum Genet. 2008 Jun;82(6):1290-305. doi: 10.1016/j.ajhg.2008.05.001.
7
Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.三名埃勒斯-当洛综合征患者皮肤成纤维细胞中赖氨酰羟化酶2（LH2）的表达降低并非由LH2基因的编码区或近端启动子区域的突变所致。
Mol Genet Metab. 2004 Dec;83(4):312-21. doi: 10.1016/j.ymgme.2004.07.013.
8
Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.埃勒斯-当洛综合征VIB型（EDS VIB）的异质性基础，与胶原赖氨酸羟化减少无关。
Am J Med Genet A. 2004 Dec 1;131(2):155-62. doi: 10.1002/ajmg.a.30302.
9
The human genome browser at UCSC.加州大学圣克鲁兹分校的人类基因组浏览器。
Genome Res. 2002 Jun;12(6):996-1006. doi: 10.1101/gr.229102.
10
BLAT--the BLAST-like alignment tool.BLAT——类BLAST比对工具。
Genome Res. 2002 Apr;12(4):656-64. doi: 10.1101/gr.229202.
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