title: BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature.
abstract: Silver syndrome/spastic paraplegia 17 is an autosomal dominant, complicated hereditary spastic paraparesis in which spasticity of the legs is accompanied by amyotrophy of the hands and occasionally also the lower limbs. Heterozygous mutations of its causative gene, the Berardinelli-Seip congenital lipodystrophy gene, have a broader spectrum of phenotypes including Silver syndrome, distal hereditary motor neuropathy type V and Charcot-Marie-Tooth disease type 2. We report a Chinese family carrying the S90L mutation with Silver syndrome and discuss our literature review of the clinical phenotypes of S90L. Most reported patients (21 of 26) with this mutation showed a phenotype of Silver syndrome. The S90L mutation is predominantly associated with Silver syndrome.
authors.affiliation: Department of Neurology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, PR China.
authors.forename: Zhidong
authors.initials: Z
authors.lastname: Cen
authors.affiliation: Department of Neurology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, PR China.
authors.forename: Xingjiao
authors.initials: X
authors.lastname: Lu
authors.affiliation: Department of Children's Medicine, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, PR China.
authors.forename: Zhenzhen
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Department of Neurology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, PR China.
authors.forename: Zhiyuan
authors.initials: Z
authors.lastname: Ouyang
authors.affiliation: Department of Neurology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, PR China.
authors.forename: Fei
authors.initials: F
authors.lastname: Xie
authors.affiliation: Department of Neurology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, PR China. Electronic address: luoweirock@126.com.
authors.forename: Wei
authors.initials: W
authors.lastname: Luo
mesh_terms: D000328:Adult; D044466:Asian People; D005190:Family; D005260:Female; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics; D009460:Neurologic Examination; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*
chemical_list: C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits
keywords: BSCL2; Chinese; Phenotype; S90L; Silver syndrome