作者
Louise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, Patrick Rump, Yasemin Alanay, Yves Alembik, Navid Al-Madani, Helen Firth, Mohammad Hassan Karimi-Nejad, Chong Ae Kim, Kathryn Leask, Melissa Maisenbacher, Ellen Moran, John G Pappas, Paolo Prontera, Thomy de Ravel, Jean-Pierre Fryns, Elizabeth Sweeney, Alan Fryer, Sheila Unger, Louise C Wilson, Ralph S Lachman, David L Rimoin, Daniel H Cohn, Deborah Krakow, Stephen P Robertson
发表日期
2007/2/1
期刊
Journal of medical genetics
卷号
44
期号
2
页码范围
89-98
出版商
BMJ Publishing Group Ltd
简介
Background: Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently, Larsen syndrome was shown to be caused by missense mutations or small inframe deletions in FLNB, encoding the cytoskeletal protein filamin B. To further delineate the molecular causes of Larsen syndrome, 20 probands with Larsen syndrome together with their affected relatives were evaluated for mutations in FLNB and their phenotypes studied.
Methods: Probands were screened for mutations in FLNB using a combination of denaturing high-performance liquid chromatography, direct sequencing and restriction endonuclease digestion. Clinical and radiographical features of the patients were evaluated.
Results and discussion: The clinical signs most frequently associated with a FLNB mutation are the presence of supernumerary carpal and …
引用总数
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LS Bicknell, C Farrington-Rock, Y Shafeghati, P Rump… - Journal of medical genetics, 2007