Table 1

Clinical features of patients with lipodystrophy. Group 1 (BSCL2) was defined by the presence of mutations in the seipin gene, while group 2 contains all other types of BSCL. Putative linkage on chromosome 9 defined group 3 (BSCL1). Nominal variables are expressed as prevalence rate (%) and were analysed by chi-square test. Numerical variables are expressed as mean (SEM) and significance was calculated by Mann-Whitney test. Statistical significance was considered at p<0.05 comparing group 1 with groups 2 or 3.

Group 1 BSCL2Group 2 BSCL1/X/non-informative Group 3 BSCL1
(Index) (n=24) Relatives G1 (n=21) (Index) (n=20) Relatives G2 (n=5) (Index) (n=17) p 1/2p 1/2
ND, Not determined. NS, Not statistically significant.
Gender (F/M) 10/14 8/13 15/5 3/2 13/4 0.02 0.02
Mean age (y) 20.8 (2.6) 18.5 (3.3) 20.3 (2.8) 24.0 (4.6) 21.6 (2.8) NS NS
Death (%) 16.7 14.3 10.0 0.0 NS NS
Age at death (y) 26.2 (4.7) 20.7 (10.2) 4.5 NS NS
Congenital lipoatrophy (%) 75.0 85.0 52.6 100.0 56.2 NS NS
Age of delayed lipoatrophy (mth) 3.0 (1.6) 1.9 (1.8) 29.5 (17.5) 34.3 (20.6) NS NS
Average birth weight (g) 3022 (150) 3076 (120) 2845 (130) 2910 (340) 3007 (115) NS NS
Defect in birth weight (10th) 23.8 33.3 27.7 50.0 12.5 NS NS
Diabetes mellitus (%) 45.8 23.8 35.0 0.0 35.3 NS NS
Age of onset of diabetes (y) 14.7 ± 1.9 24.8 ± 2.7 14.3 ± 3.5 16.3 ± 3.4 NS NS
Hypertrophic cardiomyopathy (%) 33.3 14.2 25.0 0.0 23.5 NS NS
Bone cysts (%) 8.3 4.8 25.0 40.0 23.5 NS NS
Intellectual impairment (%) 75.0 85.0 15.0 0.0 11.8 0.0001 0.0001
Parental consanguinity (%) 70.8 ND 45.0 ND 52.9 NS NS
African ancestry (%) 0.0 ND 35.0 ND 58.2 0.005 0.002