与COL11A1基因座剪接缺陷相关的马歇尔综合征。
Marshall syndrome associated with a splicing defect at the COL11A1 locus.
作者信息
Griffith A J, Sprunger L K, Sirko-Osadsa D A, Tiller G E, Meisler M H, Warman M L
机构信息
Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
出版信息
Am J Hum Genet. 1998 Apr;62(4):816-23. doi: 10.1086/301789.
Abstract
Marshall syndrome is a rare, autosomal dominant skeletal dysplasia that is phenotypically similar to the more common disorder Stickler syndrome. For a large kindred with Marshall syndrome, we demonstrate a splice-donor-site mutation in the COL11A1 gene that cosegregates with the phenotype. The G+1-->A transition causes in-frame skipping of a 54-bp exon and deletes amino acids 726-743 from the major triple-helical domain of the alpha1(XI) collagen polypeptide. The data support the hypothesis that the alpha1(XI) collagen polypeptide has an important role in skeletal morphogenesis that extends beyond its contribution to structural integrity of the cartilage extracellular matrix. Our results also demonstrate allelism of Marshall syndrome with the subset of Stickler syndrome families associated with COL11A1 mutations.
摘要
马歇尔综合征是一种罕见的常染色体显性遗传性骨骼发育不良疾病，其表型与更为常见的斯-利二氏综合征相似。对于一个患有马歇尔综合征的大家族，我们在COL11A1基因中发现了一个剪接供体位点突变，该突变与表型共分离。G+1→A转换导致一个54bp外显子的框内跳跃，并从α1(XI)胶原多肽的主要三螺旋结构域中删除了氨基酸726 - 743。这些数据支持了这样一种假说，即α1(XI)胶原多肽在骨骼形态发生中具有重要作用，其作用超出了它对软骨细胞外基质结构完整性的贡献。我们的结果还证明了马歇尔综合征与与COL11A1突变相关的斯-利二氏综合征家族亚群的等位性。
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本文引用的文献
1
Ectodermal dysplasia; report of kindred with ocular abnormalities and hearing defect.外胚层发育不良；伴有眼部异常和听力缺陷的家族报告。
Am J Ophthalmol. 1958 Apr;45(4 Pt 2):143-56.
2
Altered subthreshold sodium currents and disrupted firing patterns in Purkinje neurons of Scn8a mutant mice.Scn8a突变小鼠浦肯野神经元中阈下钠电流改变及放电模式紊乱。
Neuron. 1997 Oct;19(4):881-91. doi: 10.1016/s0896-6273(00)80969-1.
3
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.错义突变导致锁骨颅骨发育不全中破骨细胞特异性转录因子OSF2/CBFA1的DNA结合功能丧失。
Nat Genet. 1997 Jul;16(3):307-10. doi: 10.1038/ng0797-307.
4
Genetic analysis of craniofacial development in the vertebrate embryo.脊椎动物胚胎颅面发育的遗传分析。
Bioessays. 1997 Jun;19(6):459-68. doi: 10.1002/bies.950190605.
5
Fibroblast growth factors, their receptors and receptor disorders.成纤维细胞生长因子、其受体及受体紊乱
J Craniomaxillofac Surg. 1997 Apr;25(2):69-79. doi: 10.1016/s1010-5182(97)80048-0.
6
The Marshall syndrome: report of a new family and review of the literature.
Am J Med Genet. 1997 May 2;70(1):52-7. doi: 10.1002/(sici)1096-8628(19970502)70:1<52::aid-ajmg11>3.0.co;2-w.
7
Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.原纤维胶原蛋白（I型、II型、III型和XI型）、原纤维相关胶原蛋白（IX型）和网络形成胶原蛋白（X型）的突变会引发一系列影响骨骼、软骨和血管的疾病。
Hum Mutat. 1997;9(4):300-15. doi: 10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9.
8
9
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.FGFR2的IgII-IgIII连接区核苷酸取代的基因型-表型相关性
Hum Mol Genet. 1997 Jan;6(1):137-43. doi: 10.1093/hmg/6.1.137.
10
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.塞特勒-乔岑综合征中，一种基本的螺旋-环-螺旋转录因子TWIST的突变。
Nat Genet. 1997 Jan;15(1):36-41. doi: 10.1038/ng0197-36.
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