Study on pathogenic genes of dwarfism disease by next-generation sequencing

Table 1 Clinical characteristics of 39 dwarf disease patients

Number	Gender	Age	Height	Weight	Height SD	AP	LDP
1	Male	11	132	27.7	-2.55	6.81	4.96
2	Male	11	124.7	28	-3.12	5.32	2.99
3	Female	4	94.3	14	-2.26	1.65	3.74
4	Male	4	91	12	-3.96	0.83	4.26
5	Male	8	118	19.5	-2.94	3.7	4.9
6	Male	5	101.5	14	-3.13	5.55	6.04
7	Male	14	124.8	12	-3.39	0.89	0.56
8	Male	4	90.5	11	-3.9	1.77	1.12
9	Male	10	125.8	21.6	-2.55	2.05	5.52
10	Male	10	122.2	24	-2.9	0.96	9.95
11	Female	5	95	13.5	-3.62	9.54	0.69
12	Male	7	114	19.5	-2.75	3.62	4.18
13	Male	14	145	34.6	-2.9	15.18	27.24
14	Female	6	103	17.1	-3.11	2.08	9.71
15	Male	4	93	11.5	-3.74	0.63	3.35
16	Female	10	121.4	23.9	-3.1	9.97	12.07
17	Male	14	138	29.5	-3.12	1.63	1.99
18	Male	6	107	19	-2.45	0.45	1.18
19	Female	5	101	17	-2.51	6.62	6.17
20	Male	4	90.1	12	-3.59	6.47	1.99
21	Male	13	135.5	25	-3.2	2.42	0.65
22	Male	5	97.4	15.8	-4	5.31	3.08
23	Male	5	101	17	-3.04	1.84	3.57
24	Male	6	103	18	-3.48	5.16	4.75
25	Male	7	109	18	-2.49	2.4	12.6
26	Male	3	90.7	13.5	-2.84	3.98	7.52
27	Male	5	100	15.5	-2.63	0.83	8.49
28	Female	8	114.3	17	-2.56	3.59	3.75
29	Female	5	98	15	-3.43	1.37	1.42
30	Male	7	95	15	-6	0.44	0.48
31	Female	4	85	11.5	-5.8	1.18	3.55
32	Female	2	81.6	11	-2.98	3.42	12.95
33	Male	13	135.5	25	3.2	2.42	0.69
34	Female	9	120	22	-3	5	6
35	Male	4	95	14	-2.98	19.27	26.3
36	Male	5	91	10	-3.5	6.55	6.55
37	Female	5	99	15	-2.67	1.14	1.57
38	Female	7	101	15	-4.08	1.14	0.19
39	Male	4	101	16	-3.13	0.38	1.52

AP: Arginine peak; LDP: L-dopa peak; SD: Standard deviation.

Table 2 Pathogenicity variability of dwarf disease by next-generation sequencing

Number	Gene	Location	Base change	Amino acid change	Type
20	TAB2	NM-015093.5	c.252delA	Ser84fs	Heterozygote
		NM-015093.5	c.254insCCATGGAAGAGAAG	Gln85fs	Heterozygote
29	OBSL1	NM-015311.2	c.3337C > T	Arg1113Cys	Heterozygote
	OBSL1	NM-001173408.1	c.82G > A	Glu28Lys	Heterozygote
31	OBSL1	NM-015311.2	c.1365-1387dup	Arg463fs	Heterozygote
	OBSL1	NM-015311.2	c.458dupG	Leu154fs	Heterozygote
32	SLC26A2	NM-000112.3	c.485-486delTG	Val162fs	Heterozygote
	SLC26A2	NM-000112.3	c.484G > T	Val162Leu	Heterozygote
34	PTPN11	NM-002834.3	C.844A > G	Ile282Val	Heterozygote
35	COL27A1	NM-032888.3	c.2113C > T	Pro705Ser	Heterozygote
	COL27A1	NM-032888.3	c.4066C > C	Asp1356His	Heterozygote
36	COL27A1	NM-032888.3	c.1163C > T	Thr388Ile	Heterozygote
	COL27A1	NM-032888.3	c.2113C > T	Pro705Ser	Heterozygote
	HDAC6	NM-006044.2	c.3049G > A	Glu1017Lys	Heterozygote
37	CUL7	NM-014780.4	c.4898C > T	Thr1633Me	Heterozygote
	CUL7	NM-014780.4	c.4261A > G	Thr1421Ala	Heterozygote
	FGFR3	NM-000142.4	c.1738G > A	Asp580Asn	Heterozygote
	DYNC2H1	NM-001377.2	c.12316T > G	Leu4106Va	Heterozygote
38	GH1	NM-000515.4	c.291 + 28G > A		z heterozygote
39	ATP7B	NM-000053.3	c.3889G > A	V1297I	Heterozygote
	ATP7B	NM-000053.3	c.2785A > G	I929V	Heterozygote

Table 3 Concentration of insulin-like growth factor-1 and insulin-like growth binding protein 3 by growth hormone therapy after 6 mo

Number	IGF-1	After therapy	Fold change	IGFBP3	After therapy	Fold change
3	283	453	1.60	4.4	6.3	1.43
5	101	266	2.63	3.4	4.8	1.41
6	98.7	149	1.51	2.9	3	1.03
7	461	527	1.14	5.2	5.3	1.02
8	31.2	63.5	2.04	1.1	2.3	2.09
11	238	220	0.92	4.5	4.1	0.91
17	572	603	1.05	6.4	5.6	0.88
18	306	340	1.11	5.3	4.8	0.91
22	101	118	1.17	3.6	3.2	0.89
24	86	160	1.86	3.5	3.7	1.06
27	119	196	1.65	3.2	4.7	1.47
29	414	464	1.12	4.8	3.2	0.67
31	175	246	1.41	4.2	4.1	0.98
38	27.4	184	6.72	2	4.8	2.40

IGF-1: Insulin-like growth factor-1; IGFBP3: Insulin-like growth binding protein 3.