Silvia Ferranti1, Caterina Lo Rizzo2, Alessandra Renieri2,3, Paolo Galluzzi4, Salvatore Grosso5,6. 1. Dipartimento di Medicina Molecolare e dello Sviluppo, Universita' degli Studi di Siena, viale Bracci 16, 53100, Siena, Italy. silvia.ferranti@hotmail.it. 2. Genetica Medica, Azienda Ospedaliera Universitaria Senese, viale Bracci 2, 53100, Siena, Italy. 3. Medical Genetics, University of Siena, viale Bracci 2, 53100, Siena, Italy. 4. U.O.C. Neuroimmagini e Neurointerventistica (NINT), Azienda Ospedaliera Universitaria Senese, viale Bracci 16, 53100, Siena, Italy. 5. Dipartimento di Medicina Molecolare e dello Sviluppo, Universita' degli Studi di Siena, viale Bracci 16, 53100, Siena, Italy. 6. U.O.C. Pediatria, Azienda Ospedaliera Universitaria Senese, viale Bracci 16, 53100, Siena, Italy.
Abstract
INTRODUCTION: Berardinelli-Seip syndrome or congenital generalized lipodystrophy type 2 is a rare genetic disorder characterized by selective loss of subcutaneous adipose tissue associated with peripheral insulin resistance and its complications. Nonprogressive mental retardation, dystonia, ataxia, and pyramidal signs are commonly present, whereas epilepsy has only occasionally been observed. CASE REPORT: We report the case of two sisters, 11 and 18 years old respectively, with an overlapping clinical phenotype compatible with Berardinelli-Seip syndrome and progressive myoclonic epilepsy. Molecular analysis identified an autosomal recessive c.1048C > t;(p(Arg350*)) pathogenic mutation of exon 8 of the BSCL2 gene, which was present in a homozygous state in both patients. CONCLUSIONS: Our paper contributes to further delineate a complex phenotype associated with BSCL2 mutation, underlining how seipin has a central and partially still unknown role that goes beyond adipose tissue metabolism, with a prominent involvement in central nervous system pathology.
INTRODUCTION:Berardinelli-Seip syndrome or congenital generalized lipodystrophy type 2 is a rare genetic disorder characterized by selective loss of subcutaneous adipose tissue associated with peripheral insulin resistance and its complications. Nonprogressive mental retardation, dystonia, ataxia, and pyramidal signs are commonly present, whereas epilepsy has only occasionally been observed. CASE REPORT: We report the case of two sisters, 11 and 18 years old respectively, with an overlapping clinical phenotype compatible with Berardinelli-Seip syndrome and progressive myoclonic epilepsy. Molecular analysis identified an autosomal recessive c.1048C > t;(p(Arg350*)) pathogenic mutation of exon 8 of the BSCL2 gene, which was present in a homozygous state in both patients. CONCLUSIONS: Our paper contributes to further delineate a complex phenotype associated with BSCL2 mutation, underlining how seipin has a central and partially still unknown role that goes beyond adipose tissue metabolism, with a prominent involvement in central nervous system pathology.
Authors: Josivan G Lima; Lucia Helena C Nobrega; Natalia Nobrega de Lima; Maria Goretti do Nascimento Santos; Maria F P Baracho; Selma Maria Bezerra Jeronimo Journal: Diabetol Metab Syndr Date: 2016-03-15 Impact factor: 3.320