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

Zhang, Xinxin; Ma, Dehua; Zou, Wei; Ding, Yibing; Zhu, Chengchu; Min, Haiyan; Zhang, Bin; Wang, Wei; Chen, Baofu; Ye, Minhua; Cai, Minghui; Pan, Yanqing; Cao, Lei; Wan, Yueming; Jin, Yu; Gao, Qian; Yi, Long

doi:10.1186/s12931-016-0377-9

Table 2 SNVs, Indels, and exon deletions identified by the assay in Test Group

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

Patient ID	Gene	RefSeq	Exon or Intron	Mutation(s) by nucleotide	Mutation(s) by amino acid	Mutation type	Conventional method of detection
F01	FLCN	NM_144997	exon11	c.1285dupC	p.H429PfsX27	Frameshift insertion, protein truncation	Sanger Sequence
F02	FLCN	NM_144997	exon11	c.1285dupC	p.H429PfsX27	Frameshift insertion, protein truncation	Sanger Sequence
F03	FLCN	NM_144997	exon14	c.1579_1580insA	p.R527QfsX75	Frameshift deletion, protein truncation	Sanger Sequence
F04	FLCN	NM_144997	exon4	c.182_186dupACAGC	p.P63TfsX69	Frameshift deletion, protein truncation	Sanger Sequence
F05	FLCN	NM_144997	exon12	c.1360dupT	p.C454LfsX2	Frameshift deletion, protein truncation	Sanger Sequence
F06	FLCN	NM_144997	exon11	c.1285delC	p.H429TfsX39	Frameshift deletion, protein truncation	Sanger Sequence
F07	FLCN	NM_144997	exon9	c.946_947delAG	p.S316YfsX73	Frameshift deletion, protein truncation	Sanger Sequence
F08	FLCN	NM_144997	exon10	c.1156_1175del	p.S386DfsX63	Frameshift deletion, protein truncation	Sanger Sequence
F09	FLCN	NM_144997	exon14	c.1648_1658del	p.L550DfsX48	Frameshift deletion, protein truncation	Sanger Sequence
F10	FLCN	NM_144997	exon6	c.469_471delTTC	p.F157del	In-frame deletion	Sanger Sequence
F11	FLCN	NM_144997	exon13	c.1522_1524delAAG	p.K508del	In-frame deletion	Sanger Sequence
F12	FLCN	NM_144997	intron4	c.250–3_268del	---	Splice site	Sanger Sequence
F13	FLCN	NM_144997	exon6	c.507G > A	p.W169X	Nonsense mutation	Sanger Sequence
F14	FLCN	NM_144997	exon6	c.507G > A	p.W169X	Nonsense mutation	Sanger Sequence
F15	FLCN	NM_144997	intron13	c.1539–1G > A	---	Splice site	Sanger Sequence
F16	FLCN	NM_144997	exon1–3	c.-504–1355_-25 + 894 del	---	Large intragenic deletion	MLPA
F17	FLCN	NM_144997	exon14	c.1539–476_1740 + 1077 del	---	Large intragenic deletion	MLPA
F18	FLCN	NM_144997	exon9–14	c.872–562_1740 + ?^a del	---	Large intragenic deletion	MLPA
F19	FLCN	NM_144997	exon9–14	c.872–562_1740 + ?^a del	---	Large intragenic deletion	MLPA

^aThe breakpoint is within the 3′ flank of the FLCN gene, which was not included in the panel

Back to article page

ISSN: 1465-993X

Contact us

General enquiries: journalsubmissions@springernature.com

Respiratory Research

Contact us