Table 1 Description of the main clinical features of the patients with CGL (n = 17)
From: Reduced gut microbiota diversity in patients with congenital generalized lipodystrophy
Case sex/age/tanner stage | CGL subtype/pathogenic variants | Comorbidities | Drugs | Delivery/breastfeeding (duration) | Dysbiosis |
|---|---|---|---|---|---|
1 Male/1y G1P1 | Type 1 AGPAT2 c.299G>A, p.Ser100Asn (Heterozygosis), c.493-1G>C, p.Leu165_Gln196del (Heterozygosis), and c.589-2A>G, p.Gln196fs*228 (Heterozygosis) | Diabetes | Vitamins Minerals | Abdominal Yes (8Â m) | No |
2 Male/5y G1P1 | Type 1—AGPAT2 c.299G > A, p.Ser100Asn (Homozygosis); c.493-1G > C, p.Leu165_Gln196del (Homozygosis) | No | No | Abdominal Yes (15d) | Yes |
3 Fem/6y M1P2 | Type 1—AGPAT2 c.299G > A, p.Ser100Asn (Homozygosis); c.493-1G > C, p.Leu165_Gln196del (Homozygosis) | Dyslipidemia | No | Vaginal Yes (18 m) | No |
4 Male/8y G2P2 | Type 2—BSCL2 c.325dupA, p.Thr109Asnfs*5 (Homozygosis) | Dyslipidemia | Metformin | Vaginal Yes (5 m) | No |
5 Male/9y G2P1 | Type 1—AGPAT2 c.299G > A, p.Ser100Asn (Homozygosis); c.493-1G > C, p.Leu165_Gln196del (Homozygosis) | Dyslipidemia | No | Vaginal Yes (6 m) | No |
6 Fem/11y M4P4 | Type 2—BSCL2 c.325dupA, p.Thr109Asnfs*5 (Homozygosis) | Diabetes Dyslipidemia Nephropathy Neuropathy Papillary thyroid cancer | Metformin Captopril | Vaginal Yes (5 m) | No |
7 Fem/12y M4P5 | Type 1—AGPAT2 c.369_372delGCTC, p.Leu124Serfs*26 (Homozygosis) | No | No | Vaginal Sim (24 m) | Yes |
8 Fem/15y M4P5 | Type 2—BSCL2 c.412C > T, p.Arg138* (Homozygosis) | Diabetes Dyslipidemia Nephropathy Neuropathy Liver disease | Metformin Insulin Propranolol | Abdominal Yes (18 m) | No |
9 Male/20y G5P5 | Type 2—BSCL2 c.301_302insAA, p.Met101Lysfs*11 (Heterozygosis), c.325dupA, p.Thr109Asnfs*5 (Heterozygosis) | Diabetes Dyslipidemia Neuropathy Nephropathy Retinopathy | Metformin Insulin Metoprolol | Vaginal Yes (36 m) | No |
10 Fem/25y M5P5 | Type 1—AGPAT2 c.366–588 + 534del, p.Gly106fs*188 | Diabetes Dyslipidemia Nephropathy Neuropathy Hypothyroidism | Metformin Ciprofibrato Enalapril Levothyroxine | Vaginal Yes (24 m) | Yes |
11 Fem/25y M5P5 | Type 1—AGPAT2 c.299G > A, p.Ser100Asn (Homozygosis); c.493-1G > C, p.Leu165_Gln196del (Homozygosis) | Diabetes Dyslipidemia Nephropathy | Metformin Insulin Simvastatin | Vaginal No | No |
12 Fem/28y M5P5 | Type 1—AGPAT2 c.366–588 + 534del, p.Gly106fs*188 | Diabetes Dyslipidemia Nephropathy Retinopathy | Metformin Insulin Rosuvastatin | Abdominal Yes (48 m) | No |
13 Fem/31y M5P5 | Type 1—AGPAT2 c.366–588 + 534del, p.Gly106fs*188 | Diabetes Dyslipidemia Neuropathy Nephropathy Retinopathy | Metformin Insulina Atorvastatin Omega-3 | Abdominal Yes (6 m) | No |
14 Fem/31y M5P5 | Type 1—AGPAT2 c.369_372delGCTC, p.Leu124Serfs*26 (Heterozygosis), and c.589-2A > G, p.Gln196fs*228 (Heterozygosis) | Diabetes Hypertension Dyslipidemia Neuropathy Nephropathy Retinopathy Coronary disease | Insulin Rosuvastatin Carvedilol Clopidogrel Gabapentin Fluoxetin Clonazepan Loratadina Hydralazine Ivabradine Tapazol Isosorbide Amlodipine | Abdominal No | No |
15 Male/32y G5P5 | Type 1—AGPAT2 c.299G > A, p.Ser100Asn (Homozygosis); c.493-1G > C, p.Leu165_Gln196del (Homozygosis) | Diabetes | Metformin Insulin Aspirin | Vaginal Yes (12 m) | Yes |
16 Fem/35y M5P5 | Type 1—AGPAT2 c.646A > T, p.Lys216* (Homozygosis) | Diabetes Hypertension Dyslipidemia Nephropathy | Metformin Insulin Simvastatin Losartan Aspirin | Vaginal Yes (unknown) | No |
17 Fem/41y M5P5 | Type 1—AGPAT2 c.299G > A, p.Ser100Asn (Homozygosis); c.493-1G > C, p.Leu165_Gln196del (Homozygosis) | Diabetes Hypertension Dyslipidemia | Metformin Insulin Atorvastatin Losartan | Vaginal Yes (12 m) | No |