title: Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy.
abstract: Mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been identified in families with distal hereditary motor neuropathy (dHMN) and in families with SPG17-linked Silver syndrome. We studied the first Korean families with clinical features resembling classic Silver syndrome and dHMN type V. Direct sequencing analysis of the BSCL2 gene revealed a Ser90Leu mutation in the proband, a younger sister, and one of two sons of the proband. The clinical patterns in this family include presentation with lower-limb and hand-muscle involvement early in the disease course as well as the presence of Babinski signs with nonprogressive mild spastic paraparesis, resembling classic Silver syndrome and dHMN type V. This study reaffirms the clinical phenotype of the disorders associated with a BSCL2 Ser90Leu mutation and describes a genetically proven family with Silver syndrome and dHMN type V in Asia.
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-dong Gangnam-gu, Seoul, 135-710 Korea.
authors.forename: Hyun-Jung
authors.initials: HJ
authors.lastname: Cho
authors.forename: Duk-Hyun
authors.initials: DH
authors.lastname: Sung
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D005260:Female; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics*; D006801:Humans; D007723:Korea; D007930:Leucine / Q000737:chemistry / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D001405:Reflex, Babinski; D012694:Serine / Q000737:chemistry / Q000235:genetics; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome
chemical_list: C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits; D012694:Serine; D007930:Leucine