Table 2 of
Jin, Mol Vis 2007;
13:1280-1284.Table 2 of
Jin, Mol Vis 2007;
13:1280-1284.
Table 2. Clinical manifestations and sequence variations in Chinese patients with predominant ectopia lentis and Marfanoid habitus
All affected individuals had spontaneous bilateral EL in childhood. EL = ectopia lentis; FC = flat cornea; My = myopia; St = strabismus; IAL = increased axial length; ASD = atrial septal defect; MVR = mitral valve regurgitation PC = pectus carinatum; Sc = scoliosis (>20°); Ar = arachnodactyly; RE = reduced extension at the elbows (<170°); DC = dental crowding
Clinical
ID Age Gender manifestations Mutations Effects Exons Protein domains
--- --- ------ -------------- --------- ------------ ----- -----------------
Yl 15 F EL, My, ASD, c.203G>T p.Cys68Phe 2 NH2 unique region
mild MVR, PC,
Ar, DC
Zpq 7 M EL, My c.364C>T p.Arg122Cys 4 EGF-like No.02
Khx 7 F EL, My, FC c.502T>C p.Cys168Arg 5 EGF-like No.03
Zhy 29 M EL, My, FC, c.1633C>T p.Arg545Cys 13 cb EGF-like No.04
St, IAL, DC
Lsy 8 F EL, My, FC c.1879C>T p.Arg627Cys 15 cb EGF-like No.06
Cjf 36 F EL, My c.2096G>C p.Cys699Ser 16 8-Cys/TB No.02
Lq 19 F EL, My, FC, c.4588C>T p.Arg1530Cys 37 8-Cys/TB No.04
Sc, Ar, RE, DC
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