Table 2.

FBN1 Mutations Identified in Individuals with GD and AD

Family	Origin	Diagnosis	Nucleotide Change	Amino Acid Change	Parent Tested: De Novo Event Confirmed
1	Belgium	GD	c.5087A>G	p.Tyr1696Cys	yes
2	France	GD	c.5096A>G	p.Tyr1699Cys	yes
3	Russia	GD	c.5284G>A	p.Gly1762Ser	no mutation in the mother; father not available
4	Switzerland	GD	c.5096A>G	p.Tyr1699Cys	Parents not available
5	Russia	GD	c.5284G>A	p.Gly1762Ser	yes
6	France	GD	c.5284G>A	p.Gly1762Ser	yes
7	UK	GD	c.5087A>G	p.Tyr1696Cys	yes
8	Turkey	GD	c.5096A>G	p.Tyr1699Cys	no mutation in the mother; father not available
9	Algeria	GD	c.5117G>A	p.Cys1706Tyr	yes
10	Lebanon	GD	c.5157C>G	p.Cys1719Trp	yes
11	USA	GD	c.5096A>G	p.Tyr1699Cys	no
12	Turkey	GD	c.5284G>A	p.Gly1762Ser	yes
13	Russia	GD	c.5284G>A	p.Gly1762Ser	yes
14	Iraq	GD	c.5182G>A	p.Ala1728Thr	yes
15	USA	GD	c.5183C>T	p.Ala1728Val	yes
16	Japan	GD	c.5095T>G	p.Tyr1699Asp	yes
17	Australia	GD	c.5198G>A	p.Cys1733Tyr	yes
18	USA	GD	c.5284G>A	p.Gly1762Ser	no
19	Korea/Japan	GD	c.5096A>G	p.Tyr1699Cys	no mutation in the mother; father not available
20	France	AD	c.5182G>A	p.Ala1728Thr	yes
21	France	AD	c.5165C>G	p.Ser1722Cys	yes
22-a	France	AD	c.5251T>G	p.Ser1750Arg	inherited from 22-c
22-b	France	AD	c.5251T>G	p.Ser1750Arg	inherited from 22-c
22-c	France	AD	c.5251T>G	p.Ser1750Arg	yes
23	Belgium	AD	c.5177G>T	p.Gly1726Val	yes
24	Netherlands	AD	c.5096A>G	p.Tyr1699Cys	yes
25	France	AD	c.5202_5204dup	p.Gln1735dup	yes
26	Italy	AD	c.5273A>T	p.Asp1758Val	no
27-a	China	AD	c.5099A>G	p.Tyr1700Cys	inherited from 27-b
27-b	China	AD	c.5099A>G	p.Tyr1700Cys	yes
28	France	AD	c.5141T>G	p.Met1714Arg	yes
29	France	AD	c.5165C>G	p.Ser1722Cys	yes