Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene
Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene
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DOI：
10.1002/pd.2164
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发表时间：
2009-02-01
影响因子：
3
通讯作者：
Le Caignec, C.
中科院分区：
文献类型：
--
作者：
Winer, N.;Kyndt, F.;Le Caignec, C.
Larsen综合征[OMIM 150 250]是一种常染色体显性骨骼发育不良，以颅面特征、大关节脱位和四肢异常为特征。颅面异常包括远视、前额突出、鼻梁凹陷和中脸扁平。大关节（膝关节、髋部、肘部、胫跗骨）脱位，包括至少一个膝关节的前脱位是主要特征。肢体异常包括肱骨远端非常特征性的逐渐变细。其他偶见的表现包括身材矮小、腭裂，骨骼外表现包括双侧睾丸异位、视网膜病变和双侧黄斑发育不良、耳聋、心脏异常（室间隔缺损）和气管软化。位于染色体3p14的丝蛋白B （FLNB）编码基因突变的杂合性。已经在广泛的骨软骨发育不良症中发现了3种，包括Larsen综合征，III型（AOIII）和I型，回飞镖发育不良和跖椎峡部综合征（Krakow et al., 2004）。丝蛋白B是调节细胞骨架所必需的细胞骨架蛋白，在信号转导、细胞分裂运动和小分子运输中起作用。
Larsen syndrome [OMIM 150 250] is an autosomal dominant skeletal dysplasia characterized by craniofacial features, large-joint dislocations and abnormalities of the extremities. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge and a flattened midface. Dislocation of the large joints (knees, hips, elbows, tibio-tarsal) including anterior dislocation of at least one of the knees are the main features. The limb abnormalities include a very characteristic tapering aspect of the distal humerus. Other occasionally seen findings include short stature, cleft palate, and extraskeletal manifestations include bilateral testicular ectopy, retinal lesions and bilateral macular dysplasia, deafness, cardiac abnormalities (ventricular septal defect) and tracheomalacia.Heterozygosity for mutations in the gene encoding the filamin B (FLNB) located at chromosome 3p14. 3 have been identified in a wide spectrum of osteochon-drodysplasias, including Larsen syndrome, atelosteogenesis type III (AOIII) and I, boomerang dysplasia and spondylocarpotarsal syndrome (Krakow et al., 2004). Filamin B is a cytoskeletal protein essential in modulation of the cellular cytoskeleton and has functions in signal transduction, cell division motility and transport of small molecules.