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] |