Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel

Table 1 List of 166 genes in gene panel

GH/IGF axis	Growth hormone deficiency	POU1F1 PROP1 LHX3 LHX4 HESX1 OTX2 PITX1 SOX2 SOX3 SPR
		GLI2 GLI3 IGSF1 FGF8 FGFR1 PROKR2 HMGA2 GPR161
		GHRHR GH1BTK GHSR ALMS1 RNPC3 IFT172
	GH insensitivity	GHR STAT5B STAT3 IL2RG IGF1 IGF2 IGFALS PAPPA2 IKBKB
	IGF insensitivity	IGF1R
paracrine factors in the growth plate	FGF signaling	FGFR2 FGFR3
	BMP signaling	GDF5 BMPR1B BMP2
	WNT signaling	ROR2 WNT5A
	PTHrP-IHH pathway	PTHLH PTH1R IHH GNAS PRKAR1A PDE4D
	CNP-NPR2 pathway	NPR2
cartilage extracellular matrix		FBN1 PAPSS2 IDUA COL10A1 COL9A1 COL9A2 COL9A3 SLC26A2 COMP COL2A1 ACAN ADAMTS10
intracellular pathways	SHOX aberrations	SHOX
	Rasopathies	PTPN11 SOS1 KRAS NRAS HRAS RAF1 BRAF RIT1 NF1 RPS6KA3
	Other syndromes	FGD1 SOX9 KMT2D KDM6A TBCE FAM111A
fundamental cellular processes	Syndrome	CHD7 SEMA3E SMARCB1 SMARCA2 ARID1A ARID1B SRCAP ANKRD11 TRIM37 PIK3R1 CUL7 OBSL1 CCDC8 NIPBL SMC1A SMC3 RAD21 CDT1 CDC6 PCNT TUBGCP6 MECP2 CREBBP EP300 ATR CENPJ CEP152 CEP63 DNA2 ATRIP CRIPT
fundamental cellular processes	DNA repair defects	WRN BLM ERCC8 ERCC6 ERCC3 ERCC5 ERCC4 LMNA PCNA SMARCAL1 MCM4 MCM9 NBN RECQL4 ATRX LIG4 NHEJ1 ARTEMIS (DCLRE1C) XRCC4 FANCA
Other		THRB THRA TSHR TG FOXE1 IYD DUOX2 SLC5A5 ESR1 VDR DHCR7 CYP19A1 INSR PITX2 CDK6 DRD2 IGFBP3 JAK2 HOXD13 MMP13 NOG RUNX2 TRPV4 FGF2 NPPC NPR3 COL1A1 SHOX2 MAPK1 NFKB1 AKT1 AKT2 GRB2 GRB10 ZBTB38 CDKN1C EHD1

ISSN: 1471-2350