Table 4 of Vanita, Mol Vis 2006; 12:93-99.


Table 4. Mutations in IRE bulge (5'-UGC-3' at positions 31 to 33) of FTL polypeptide in relation to ferritin levels and cataract type

This table shows the identified mutations in the bulge region of the iron responsive element (IRE) in the 5' UTR (untranslated region) of FTL (ferritin light chain polypeptide) in relation to origin of family, serum ferritin levels, age at diagnosis of cataract, and its phenotype. In the "Nucleotide change" column, the numbering starts from the transcription start site (GenBank NM_000146.3). The asterisk indicates that no exact phenotype of opacity was described by the authors.

                           Serum
Nucleotide    Origin     ferritin       Cataract           Cataract
  change     of family    (μg/l)        diagnosis        type/severity      Reference
----------   ---------   ---------   ---------------   ------------------   ---------
  32G>C      USA          793-2350   Childhood         Bilateral*             [38]
  32G>C      Italy       1270-1450   18 months         Bilateral*             [39]
  32G>C      English     2000-2898   9 weeks           Bilateral*             [40]
  32G>T      Paris       1025-2264   Late childhood/   Mild cataract*         [31]
                                     adulthood
  32G>T      Paris        734-1362   3-40 years        Pulverulent            [34]
  32G>T      Australia   1554        2 years           Bilateral*             [41]
  32G>A      Italy        950-1900   Childhood         Nuclear                [24]
                                                       (severe cataract)
  32G>A      Italy       1100-1275   7-18 years        Bilateral*             [28]
                                                       mild to severe
  32G>A      India       1638-2283   At birth          Severely affected     Present
                                                       Y-sutural, without    study
                                                       nuclear opacities
  33C>T      Spain        989-1770                     Mild bilateral*        [33]
                                                       cataract during
                                                       1st decade, except
                                                       in proband
  33C>T      Italy        653-1392   9-18 years                               [34]
  33C>T      USA         1300-1440   5 years           Bilateral*             [36]
  33C>A      Paris       1000                                                 [42]

Vanita, Mol Vis 2006; 12:93-99 <http://www.molvis.org/molvis/v12/a10/>
©2006 Molecular Vision <http://www.molvis.org/molvis/>
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