Ferranti Silvia, Lo Rizzo Caterina, Renieri Alessandra, Galluzzi Paolo, Grosso Salvatore
Dipartimento di Medicina Molecolare e dello Sviluppo, Universita' degli Studi di Siena, viale Bracci 16, 53100, Siena, Italy.
Genetica Medica, Azienda Ospedaliera Universitaria Senese, viale Bracci 2, 53100, Siena, Italy.
Neurol Sci. 2020 Nov;41(11):3345-3348. doi: 10.1007/s10072-020-04418-1. Epub 2020 May 21.
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.
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.
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.
贝拉尔迪内利 - 塞普综合征或2型先天性全身性脂肪营养不良是一种罕见的遗传性疾病，其特征是皮下脂肪组织选择性缺失，伴有外周胰岛素抵抗及其并发症。常出现非进行性智力迟钝、肌张力障碍、共济失调和锥体束征，而癫痫仅偶尔被观察到。
我们报告了分别为11岁和18岁的两姐妹的病例，她们具有与贝拉尔迪内利 - 塞普综合征和进行性肌阵挛癫痫相符的重叠临床表型。分子分析确定了BSCL2基因第8外显子的常染色体隐性c.1048C>t；（p（Arg350*））致病突变，两名患者均为纯合状态。
我们的论文有助于进一步描绘与BSCL2突变相关的复杂表型，强调了丝蛋白如何具有超出脂肪组织代谢的核心且部分仍未知的作用，在中枢神经系统病理学中具有显著影响。
