title: Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.
abstract: Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver syndrome/spastic paraplegia 17, distal hereditary motor neuropathy type V, and Charcot-Marie-Tooth disease type 2 (CMT2) with predominant hand involvement. We studied an Italian family with a CMT2 phenotype with pyramidal signs that had subclinical sensory involvement on sural nerve biopsy. Direct sequencing analysis of the BSCL2 gene in the three affected siblings revealed an S90L mutation. This report confirms the variability of clinical phenotypes associated with a BSCL2 Ser90Leu mutation and describes the first Italian family with this mutation.
authors.affiliation: Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Luigetti
authors.forename: G M
authors.initials: GM
authors.lastname: Fabrizi
authors.forename: F
authors.initials: F
authors.lastname: Madia
authors.forename: M
authors.initials: M
authors.lastname: Ferrarini
authors.forename: A
authors.initials: A
authors.lastname: Conte
authors.forename: A
authors.initials: A
authors.lastname: Delgrande
authors.forename: P A
authors.initials: PA
authors.lastname: Tonali
authors.forename: M
authors.initials: M
authors.lastname: Sabatelli
mesh_terms: D000200:Action Potentials / Q000502:physiology; D000328:Adult; D000368:Aged; D001706:Biopsy; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics*; D004568:Electrodiagnosis; D004594:Electrophysiology; D005260:Female; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics*; D020233:Gait Disorders, Neurologic / Q000209:etiology / Q000235:genetics; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications / Q000235:genetics*; D006801:Humans; D007558:Italy; D052497:Lipodystrophy, Congenital Generalized / Q000150:complications / Q000235:genetics; D009154:Mutation; D009431:Neural Conduction / Q000502:physiology; D011712:Pyramidal Tracts / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology
chemical_list: C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits