Table 3.

IGF1R Potentially Nonsynonymous Variants

Variant	Exon	cDNA	Protein	MAF	Subject	Sex	Height SD	Birth weight, ga	IGF-1 (Normal Rangeb), ng/mL
1	2	c.418dupG	p.A140Gfs*5	Novel	Case 1	F	−4.1	Unknown	389.8 (244–787)
2	5	c.1247 + 3A>G	Intron	0.0007	Case 2	F	−3.9	2800	26.6 (49–342)
3	7	c.1463 − 5 C>A	Intron	0.012	Case 3	M	−2.4	3500	52.2 (49–342)
4	6	c.1411C>T	p.R471C	Novel	Case 4	M	−2.3	4100	34 (63–279)
5	7	c.1502C>T	p.S501 liter	Novel	Case 5	M	−3.0	3400	148 (63–279)
6	6	c.1336A>G	p.M446V	0.0027	Case 6	F	−2.8	2600	97.2 (49–342)
					Control 6	F	0.0
7	6	c.1310G>A	p.R437H	0.004	Case 7a	F	−3.3	4200	69.9 (49–342)
					Case 7b	F	−3.1	3800	62 (63–279)
					Control 7a	F	+0.4
					Control 7b	M	0.0
					Control 7c	M	−0.4
8	5	c.1162G>A	p.V388 m	0.003	Control 8	M	−0.6
9	7	c.1532G>A	p.R511Q	0.003	Control 9	M	−0.4

Abbreviations: F, female; M, male.

^aAll case patients were the product of full-term pregnancies (>37 weeks) with the exception of case 7b (36.5 weeks). None of the case patients met the definition for intrauterine growth retardation (weight <2500 g at birth for normal gestation).

^bNormal range for sex and Tanner stage. All IGF-I values were obtained during a baseline clinical evaluation and were measured when the patient was not receiving growth hormone therapy.