Table 1. MFS-specific diagnostic... | Rockefeller University Press

Table 1.

MFS-specific diagnostic criteria and results of FBN1 genetic testing

Patient	Systemic score	Family history	Ectopia lentis	FBN1 gene pathogenic variant
Patient	Systemic score	Family history	Ectopia lentis	Exon	Nucleotide change	Amino acid change	Mutation effect	Type	Pathogenicity
PAP33	9			55	c.6697C>T	p.Pro2233Ser	Missense	DN	Likely pathogenic
PAP37	8		Present	32	c.3959G>C	p.Cys1320Ser	Missense	DN	Likely pathogenic
PAP39	8			56	c.6856G>T	p.Gly2286Ter	Nonsense	HI	Pathogenic
PAP46	7	Present		Intron 38	c.4748-3T>G		Splice site	HI	Pathogenic
PAP57	13	Present		8	c.762delC	p.Leu256Serfs*74	Frameshift	HI	Pathogenic
PAP70	9		Present	58	c.7168T>C	p.Cys2390Arg	Missense	DN	Pathogenic
PAP87	5			Intron 35	c.4337-2A>G		Splice site	HI	Pathogenic
PAP90	9	Present		2–4			CNV	HI	Pathogenic
PAP93	7	Present		14	c.1693C>T	p.Arg565Ter	Nonsense	HI	Pathogenic
PAP100	5				c.1282_1283delCCinsTG	p.Pro428Cys	Missense	DN	Likely pathogenic
PAP101	9	Present	Present	19	c.2287T>G	p.Cys763Gly	Missense	DN	Likely pathogenic
PAP104	7		Present	24	c.2809T>C	p.Cys937Arg	Missense	DN	Likely pathogenic

Patient	Systemic score	Family history	Ectopia lentis	FBN1 gene pathogenic variant
Patient	Systemic score	Family history	Ectopia lentis	Exon	Nucleotide change	Amino acid change	Mutation effect	Type	Pathogenicity
PAP33	9			55	c.6697C>T	p.Pro2233Ser	Missense	DN	Likely pathogenic
PAP37	8		Present	32	c.3959G>C	p.Cys1320Ser	Missense	DN	Likely pathogenic
PAP39	8			56	c.6856G>T	p.Gly2286Ter	Nonsense	HI	Pathogenic
PAP46	7	Present		Intron 38	c.4748-3T>G		Splice site	HI	Pathogenic
PAP57	13	Present		8	c.762delC	p.Leu256Serfs*74	Frameshift	HI	Pathogenic
PAP70	9		Present	58	c.7168T>C	p.Cys2390Arg	Missense	DN	Pathogenic
PAP87	5			Intron 35	c.4337-2A>G		Splice site	HI	Pathogenic
PAP90	9	Present		2–4			CNV	HI	Pathogenic
PAP93	7	Present		14	c.1693C>T	p.Arg565Ter	Nonsense	HI	Pathogenic
PAP100	5				c.1282_1283delCCinsTG	p.Pro428Cys	Missense	DN	Likely pathogenic
PAP101	9	Present	Present	19	c.2287T>G	p.Cys763Gly	Missense	DN	Likely pathogenic
PAP104	7		Present	24	c.2809T>C	p.Cys937Arg	Missense	DN	Likely pathogenic