RT期刊文章SR电子T1细丝蛋白突变导致室周的异位与恰当牵拉摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯SP 254 OP 262做wnl.0000149512.79621 10.1212/01.。首页DF VO 64 V 2 A1。l·辛A1。Jansen A1 m·h·陈A1大肠Parrini A1 t·摩根A1 r . Ravenscroft A1 V。Ganesh A1 t·安德伍德A1 j·威利A1 r . levent A1 r . r . Vaid A1 d·e·鲁伊兹A1通用哈钦斯A1梅纳沙市A1 j·j·维尔纳A1耿y A1 K。w . Gripp A1 l·尼科尔森A1大肠Berry-Kravis A1。博德尔A1 K。拱点A1 r . s .希尔A1 F。Dubeau A1 F。Andermann A1 j . Barkovich A1大肠Andermann A1 y y Shugart A1 p . Thomas A1 m . Viri A1 p Veggiotti A1 s罗伯逊A1 r . Guerrini A1 c·a·沃尔什年2005 UL //www.ez-admanager.com/con首页tent/64/2/254.abstract AB目的:定义临床、放射和遗传特性的室周的异位(PH)恰当牵拉(EDS)。方法:其实测序和单链构象多态性(SSCP)分析影响个人。 Linkage analysis using microsatellite markers on the X-chromosome was performed on a single pedigree. Western blotting evaluated for loss of filamin A (FLNA) protein and Southern blotting assessed for any potential chromosome rearrangement in this region. Results: The authors report two familial cases and nine additional sporadic cases of the EDS-variant form of PH, which is characterized by nodular brain heterotopia, joint hypermobility, and development of aortic dilatation in early adulthood. MRI typically demonstrated bilateral nodular PH, indistinguishable from PH due to FLNA mutations. Exonic sequencing or SSCP analyses of FLNA revealed a 2762 delG single base pair deletion in one affected female. Another affected female harbored a C116 single point mutation, resulting in an A39G change. A third affected female had a 4147 delG single base pair deletion. One pedigree with no detectable exonic mutation demonstrated positive linkage to the FLNA locus Xq28, an affected individual in this family also had no detectable FLNA protein, but no chromosomal rearrangement was detected. Conclusion: These results suggest that the Ehlers-Danlos variant of periventricular heterotopia (PH), in part, represents an overlapping syndrome with X-linked dominant PH due to filamin A mutations.

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