Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred

Table 2 Phenotypic delineation of the 16 family members studied

ID	Sex	Genotype	Age (years)	BMI	Cholesterol (mg/dl)	LDL (mg%)	HDL (mg/dl)	TG (mg/dl)	Glucose (mg/dl)	HbA1C (%)
III:5	F	Hom	25–30	48	358	N/A	63	444	413	16
III:6	M	Hom	25–30	57	156	107	36	66	86	6.2
IV:1	M	Hom	5–10	36 (3.1)	153	93	28	162	73	5.5
IV:5	F	Hom	5–10	37 (3.1)	150	80	37	165	88	5.7
II:5	F	Het	55–60	35	172	70	45	284	363	12.1
III:4	M	Het	30–35	22	148	83	52	66	89	N/A
III:1	M	Het	25–30	26	209	132	41	180	217	7.4
III:3	F	Het	25–30	48	184	127	45	61	80	N/A
III:2	F	Het	25–30	32	193	119	41	164	90	5.6
III:9	M	Het	20–25	24	157	87	48	111	89	N/A
IV:2	F	Het	5–10	17 (1.0)	N/A	N/A	N/A	N/A	116	N/A
III:8	M	WT	25–30	33	244	169	35	202	82	N/A
III:10	F	WT	20–25	20	N/A	N/A	N/A	N/A	74	N/A
III:7	M	WT	20–25	35	179	114	49	82	94	N/A
IV:3	M	WT	1–5	17	N/A	N/A	N/A	N/A	94	N/A
IV:4	F	WT	1–5	18	N/A	N/A	N/A	N/A	81	N/A

Hom homozygous, Het heterozygous, WT wild type, F female, M Male. Age adjusted Z scores of BMI values for Het / Hom children (compared to WHO norms) given in parenthesis. N/A not available. Ages (years) given in ranges to obscure patient identity

ISSN: 1471-2350