Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal.
作者信息
Pop R, Conz C, Lindenberg K S, Blesson S, Schmalenberger B, Briault S, Pfeifer D, Scherer G
出版信息
J Med Genet. 2004 Apr;41(4):e47. doi: 10.1136/jmg.2003.013185.
Abstract
摘要
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1
Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal.通过阵列比较基因组杂交技术对1 Mb的SOX9 5'调控区域进行筛查，在一例伴有XY性反转的弯肢性发育异常病例中发现了一个大片段缺失。
J Med Genet. 2004 Apr;41(4):e47. doi: 10.1136/jmg.2003.013185.
2
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.常染色体性反转和弯肢侏儒症是由与SRY相关的基因SOX9及其周围的突变引起的。
Cell. 1994 Dec 16;79(6):1111-20. doi: 10.1016/0092-8674(94)90041-8.
3
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.先天性脊柱发育不良和常染色体性反转中SOX9基因的突变分析：缺乏基因型/表型相关性。
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Comparative genomics of the SOX9 region in human and Fugu rubripes: conservation of short regulatory sequence elements within large intergenic regions.人类与红鳍东方鲀SOX9区域的比较基因组学：大基因间区域内短调控序列元件的保守性
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Structural and functional characterization of the mouse Sox9 promoter: implications for campomelic dysplasia.小鼠Sox9启动子的结构与功能特征：对弯肢发育异常的影响
Hum Mol Genet. 1999 Apr;8(4):691-6. doi: 10.1093/hmg/8.4.691.
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Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene.一名土耳其患者患有无性别反转的弯肢侏儒症，这是由SOX9基因内的Ala119Val突变所致。
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Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene.伴有XY性反转的弯肢侏儒症：单基因突变导致的多种表型
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Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia.SOX9上游远距离调控元件的缺失会导致弯肢侏儒症。
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Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.一名日本XY男性的SOX9基因HMG盒中出现新型错义突变，导致弯肢侏儒症和严重的男性化缺陷。
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Evidence to exclude SOX9 as a candidate gene for XY sex reversal without skeletal malformation.排除SOX9作为无骨骼畸形的XY性反转候选基因的证据。
J Med Genet. 1996 Sep;33(9):800-1. doi: 10.1136/jmg.33.9.800.
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