Table 1 Description of clinical, laboratory parameters and genetic analysis of subjects with inherited lipodystrophy.
Subject | Type of LS | Age at diagnosis/ Gender | BMI (kg/m2) | Physical features | Complications | HbA1c (on treatment) | TGL (mg/dl) | C-peptide (ng/ml) | Gene | Mutation | Amino acid change | ACMG classification |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
LD1 | CGL | 16/F | 16.91 | Acromegaloid, AN*, phlebomegaly, muscular | Hepatic steatosis | 6.3% (45 mmol/mol) | 404 | NA | AGPAT2 | Homozygous AGPAT2(NM_006412.4):c.493–2A>G | Splice Variant | Likely pathogenic |
LD2 | CGL | 19/M | 15.1 | Acromegaloid, AN*, phlebomegaly, muscular | Chronic hepatic disease- hepatic cirrhosis | 9.3% (78 mmol/mol) | 180 | 9.8 | BSCL2 | Homozygous BSCL2(NM_001122955.3):c.570del | p.Leu191TrpfsTer21 | Likely pathogenic |
LD3# | CGL | 24/F | 21.8 | Acromegaloid, AN*, phlebomegaly, muscular | Hepatic steatosis | 5.6% (38 mmol/mol) | 289 | NA | AGPAT2 | Homozygous AGPAT2(NM_006412.4):c.254_258dup | p.Gln87GlyfsTer20 | Likely pathogenic |
LD4@ | FPLD | 15/F | 22.2 | Cushingoid, AN*, phlebomegaly, muscular | Hepatic steatosis | 7.6% (60 mmol/mol) | 228 | NA | LMNA | Heterozygous LMNA(NM_170707.4):c.1444C>T | p.Arg482Trp | Likely pathogenic |
LD5#@ | FPLD | 16/F | 17.6 | Cushingoid, AN*, phlebomegaly, muscular | Hepatic steatosis | 12% (108 mmol/mol) | 1293 | 3.07 | LMNA | Heterozygous LMNA(NM_170707.4):c.1444C>T | p.Arg482Trp | Likely pathogenic |
LD6 | FPLD | 18/F | 20.5 | Cushingoid, AN*, phlebomegaly, muscular | Hepatic steatosis | 7% (53 mmol/mol) | 336 | 15 | LMNA | Heterozygous LMNA (NM_170707.4):c.1456A>G | p.Lys486Glu | Likely pathogenic |
LD7 | FPLD | 35/F | 19.1 | AN*, phlebomegaly, muscular | Stage 3 CKD | 5.4% (36 mmol/mol) | 861 | NA | PPARG | Heterozygous PPARG(NM_015869.5):c.949T>C | p.Ser317Pro | Variant of undetermined significance |
LD8 | FPLD | 35/F | 22.5 | Cushingoid, AN*, phlebomegaly, muscular | Hepatic steatosis | 7% (53 mmol/mol) | 318 | 7.41 | LMNA | Heterozygous LMNA(NM_170707.4):c.1445G>A | p.Arg482Gln | Likely pathogenic |
