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Table 4 Mutations identified in the 21 SP patients of the blinded sample 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 Zygosity Classification Comments
F29 FLCN NM_144997 exon14 c.1648_1658del p.L550DfsX48 Frameshift deletion Heterozygous Definitely Pathogenic  
F37 FLCN NM_144997 exon6 c.473delT p.I158TfsX19 Frameshift deletion Heterozygous Definitely Pathogenic  
F32 FBN1 NM_000138 exon51 c.6169C > T p.R2057X Stopgain SNV Heterozygous Definitely Pathogenic Not reported in any database
F27 FBN1 NM_000138 exon19 c.2269G > C p.D757H Missense SNV Heterozygous Likely Pathogenic Situates in the EGF-like calcium-binding domain of FBN1; highly conserved; predicted damaging
F33 TSC1 NM_000368 exon15 c.1631G > A p.G544E Missense SNV Heterozygous Likely Pathogenic Highly conserved; predicted damaging
F34 FLCN NM_144997 intron10 c.1177–21G > A --- Splicing Heterozygous Likely Pathogenic Branch Site mutation