Molecular Vision: Deng, Mol Vis 2008; 14:1229-1233. Table 2

Table 2. Arginine to cysteine substitutions reported in FBN1 is related to isolated ectopia lentis.

Mutations	Exons	Protein domains	IEL reported	Other clinical manifestations reported	Reference
R62C	2	Fib-4-cys	Yes	RD, ARD, Ar, PP, En, SA	[19,20]
R122C	4	EGF-like #2	Yes	My, HS, MVP, HP, Ar, KJE, Sco, PE, TK, IH	[13,17,18,21-24]
R240C	6	Hybrid Motif No 1	Yes	JH, My, Str, HS, SA, IH	[13,17,21,23,25]
R545C	13	cbEGF-like #4	Yes	HP, JH, My, PE, PC, FC, Str, IAL, DC	[17,18,21,23,26]
R627C	15	cbEGF-like #6	Yes	HP, DBH, MVP, My, FC, DC	[18,26,27]
R954C	24	LTBP #03	Yes	Gla	this report
R1530C	37	LTBP #04	Yes	MAD, My, FC, Sc, Ar, RE, DC	[18,21]
R1832C	44	cbEGF-like #26	?	?	[28]
R2680C	63	cbEGF-like #43	No	MVP, Sco, JH, PE	[29]

Fib-4-cys: a four cysteine motif with some similarities to the Fib domain; EGF-like: EGF-like domain; cbEGF-like: calcium binding EGF-like domain; LTBP: latent transforming growth factor-β binding protein- like domain; IEL-isolated ectopia lentis; RD-retinal detachment; ARD-Aortic root dilation; Ar-Arachnodactyly; PP-pes planus; En-Enophthalmus; SA-Striae atrophicae; My-myopia; HS-hyperextensible skin; MVP-Mitral valve prolapse; HP-high palate; KJE-knee joint effusions; Sco-Scoliosis; PE-pectus excavatum; TK-thoracal kyphosis; IH-inguinal hernia; JH-joint hypermobility; Str-strabismus; PC-Pectus carinatum; Gla-glaucoma; MAD-mild aortic dilation; FC - flat cornea; IAL-increased axial length; RE=reduced extension at the elbows (<170°); DC=dental crowding; DBH-disproportionate body habitus.