Table 1.

Phenotypic Data of Carriers and Noncarriers of Haploinsufficiency Mutations in MC4-R^[Note]

						Current BMI		Maximum BMI
Family and Patient	Mutation Carriera	Sexb	Age (years)	Weight (kg)	Height (cm)	Absolute (kg/m2)	Percentile	Absolute (kg/m2)c,d	Percentilee	Waist/Hip Ratiof	Percent Body Fat (%)f	Leptin (ng/ml)f	Lifetime Positive Diet Historyc,g
A
I:2	+/−	F	81	76	155	31.6	100	NI	NC	NM	NM	20.7	NI
II:1	+/+	M	49	93	175	30.4	93	NI	NC	.91	28.5	4.1	NI
II:2	+/−	F	45	103	163	38.8	99	40.7	100	.90	45.5	58.1	+
II:3	+/+	M	59	76	176	24.5	26	25	26	.88	28.1	20.7	−
II:4	+/+	M	46	70	175	22.9	17	23	17	.81	27.4	2.8	−
II:5	+/−	M	50	97	171	33	97	33	97	.99	33.9	29.9	−
II:6	+/+	F	39	75	164	28.1	86	29	94	.77	39.6	16.8	+
II:7	+/+	M	42	72	180	22.2	16	22.5	59	.81	21.4	NM	+
II:8	+/+	M	39	79	177	25.2	53	NR	NC	.90	26.3	5.3	+
II:9	+/−	M	40	94	178	29.7	92	29.7	92	.97	NM	8.7	−
II:11	+/+	F	61	63	167	22.6	18	NR	NC	.93	35.5	14.9	−
III:1	+/−	F	22	117	171	40	100	42.8	100	.89	46.6	63.1	+
III:2	+/+	M	17	72	185	21	37	NR	NC	.80	17.6	1.1	−
III:3	+/−	F	14	79	165	29	99	29	99	.86	37.4	40.9	−
III:4	+/+	M	12	81	162	30.9	100	31	100	1.02	35.8	94.1	−
III:5	+/−	F	21	78	168	27.7	98	28	98	.75	39.7	65.8	+
III:7	+/−	M	20	110	194	29.2	98	NI	NC	NM	NM	24.9	NI
III:8	+/+	M	18	66	178	21	37	21	37	.79	NM	1.6	−
B
II:1	+/+	M	68	88	173	29.4	86	38.4	100	1.07	30.9	1.9	−
II:2	+/−	F	64	106	153	45.3	100	45	100	.77	58.3	91.9	−
II:3	+/−	M	60	82	171	27.9	67	32.2	96	.79	31.3	39.9	+
II:4	+/+	F	58	87	168	30.6	93	31	93	NM	43.1	NM	−
III:2	+/−	F	39	115	167	41.2	100	41.2	100	.88	52.6	47.3	+
III:3	+/−	M	41	98	176	31.6	93	NI	NC	.94	40.3	86.2	NI
III:5	+/+	F	32	90	168	31.9	96	NI	NC	NM	33.5	41.6	NI
III:6	+/−	M	40	110	181	33.6	99	34	99	.88	33.4	15	−
IV:1	+/−	F	19	139	165	51.1	100	40.4	100	.82	55.3	NM	+
IV:3	+/−	M	8	53	143	25.9	97	26	97	.96	40.1	88.9	+
C
I:1	+/+	M	59	97	173	32.4	96	45.1	100	.88	33.3	2.2	−
I:2	+/−	F	63	154	165	56.6	100	56.6	100	.82	54.1	128	+
II:2	+/−	F	35	144	171	49.2	100	49	100	.81	51.6	123	+
III:1	+/−	F	14	114	168	40.4	100	40	100	.85	46.5	56.5	+
III:2	+/+	F	12	59	154	24.9	97	25	97	.84	34.5	16.8	−
III:3	+/−	M	10	58	140	29.8	100	30	100	NM	NM	45.9	−

Note.—Carriers were identified by means of four index patients, who belonged to three different families (A–C) (see fig. 1).

^aGenotype +/− indicates a haploinsufficiency carrier; +/+ indicates a wild type carrier.

^bF = female, M = male.

^cNI = Not interviewed.

^dNR = Not recalled.

^eNC = Not calculated.

^fNM = Not measured.

^gPlus sign (+) = positive finding; minus sign (−) = negative finding.