A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax

Table 1 Genomic regions targeted for PSP genes

Disease	Gene name	Chromosome location	Capture region	Size (bp)	Exon	Transcript
Birt–Hogg–Dube syndrome	FLCN	chr17:17115527–17145502	Whole gene	29976	14	NM_144997
Lymphangioleiomyomatosis	TSC1	chr9:135766735–135822020	Whole gene	55286	23	NM_000368
Lymphangioleiomyomatosis	TSC2	chr16:2095990–2138713	Whole gene	42724	42	NM_000548
Homocystinuria	CBS	chr21:44473301–44497053	Whole gene	23853	17	NM_000071
Ehlers-Danlos syndrome	COL3A1	chr2:189839046–189877472	Whole gene	38527	51	NM_000090
Marfan syndrome	FBN1	chr15:48700503–48938046	Exons	18559	66	NM_000138
α1- Antitrypsin deficiency	SERPINA1	chr14:94843084–94857030	Exons	4863	7	NM_001002236
			Capture size	213788	220

ISSN: 1465-993X