This report confirms the variability of clinical phenotypes associated with a BSCL2Ser90Leu mutation and describes the first Italian family with this mutation.
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 BSCL2Ser90Leu mutation and describes a genetically proven family with Silver syndrome and dHMN type V in Asia.
After refining the critical region to 1 Mb, we sequenced the gene Berardinelli-Seip congenital lipodystrophy (BSCL2) and identified two heterozygous missense mutations resulting in the amino acid substitutions N88S and S90L.