A New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy

Figures & data

Table 1 The Laboratory Test Results Of The Proband And His Family

Test	Proband	Mother	Father	Brother	Reference Range
RBC; *10^12/L	3.80	4.37	4.87	4.50	4.00–5.50
Hb;g/L	129.00	130.9	149.6	126.90	120.00–160.00
WBC; *10^9/L	12.49	6.48	4.65	17.44	5.00–120.00
Absolute neutrophil count; *10^9/L	2.20	4.07	2.33	14.11	1.80–6.30
Platelets; *10^9/L	567.00	224.4	242.5	364.30	125.00–350.00
FBG; mmol/L	9.06	8.18	4.36	6.24	3.90–6.10
Urea; μmol/L	360	251	296	233	208–428
Creatinine; μmol/L	26	47	82	36	27–62
AST; U/L	13	17	15	26	15–45
ALT; U/L	11	13	16	17	9–60
TC; mmol/L	4.03	5.10	4.17	4.50	3.10–5.20
TG; mmol/L	26.63	3.85	0.85	0.71	0.56–1.70
HDL-C; mmol/L	0.520	2.02	1.19	1.43	1.160–1.550
LDL-C; mmol/L	2.360	1.51	2.39	2.62	2.700–3.130
CK-MB; U/L	48	-	-	-	0.0–25.0
LD; U/L	501	-	-	-	109–245
Na; mmol/L	133.5	138.2	140.7	137.4	137.0–147.0
Fe; μmol/L	17.9	23.88	24.9	12.5	2.90–21.50
Estradiol; Pg/mL	5.00	-	-	-	20–75
Testosterone; ng/mL	0.85	-	-	-	1.75–7.81
Insulin	178.31	1338.46	132.25	38.65	13.6–164.68
C-peptide	6.321	>20	1.352	2.398	0.3–3.73

Note: *represents multiplication (×).

Abbreviations: CGL, congenital generalized lipodystrophy; BSCL, Berardinelli-Seip congenital lipodystrophy; WES, whole exome sequencing; RBC, routine blood analysis: red blood cells; Hb, hemoglobin; WBC, white blood cells; FBG, fasting blood glucose; Na, sodium. Fe, ferrum; TG, triglyceride; WBC, white blood count; AST, aspartate aminotransferase; ALT, alanine aminotransferase; TC, serum total cholesterol; HDL-C, high-density lipoprotein-C; LDL-C, low-density lipoprotein-C; LD, lactate dehydrogenase.

Figure 1 Pedigree chart of the congenital generalized lipodystrophy family. Arrowhead indicates the proband.