A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome

Table 2

Identified FBN1 variants using targeted NGS.

	FBN1 variant compared to RS:		Location	Zygosity	SNP ID	Frequency^1	Splicing^2
	NC_000015.10	NM_000138.4
1	g.48610929A>G	c.248-103T>C	intron 3	HZ	rs1018148	0,93234^3	NA
2	g.48537938C>G	c.539-130G>C	intron 6	HTZ	rs147780575	NR	NA
3	g.48494269G>T	c.2678-15C>A	intron 22	HTZ	NR	NR	A^4
4	g.48488453G>A	c.3123C>T^5	exon 26	HTZ	rs576395584	0.00001	NA
5	g.48444487A>T	c.6037+54T>A	intron 49	HZ	rs2303502	0.22331	NA
6	g.48437451T>C	c.6314-64A>G	intron 51	HZ	rs2042746	0.39285	NA
7	g.48428329G>C	c.6997+17C>G	intron 57	HZ	rs363832	0.27742	NA
8	g.48421799G>T	c.7571-113C>A	intron 61	HZ	rs1820488	0,81307^3	NA

RS: reference sequence; g.: genomic; c.: coding DNA; HZ: homozygous; HTZ: heterozygous; NR: not registered; NA: not affected; A: affected.
¹Population frequency from gnomAD (Genome Aggregation Database) except ³from dbSNP.
²Alamut Visual v.2.9 predictions.
⁴Activation of a cryptic acceptor splice site at c.2678-13 (see Figure 3).
⁵NP_000129.3:p.(His1041=).