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

Jin, Mol Vis 2007; 13:1280-1284 <http://www.molvis.org/molvis/v13/a139/>
©2007 Molecular Vision <http://www.molvis.org/molvis/>
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