Table 1 of
Wang, Mol Vis 2006;
12:644-648.
Table 1. Sequence variations in PAX6 identified in Chinese patients and the ocular phenotypes
All affected individuals had bilateral nystagmus. Asterisk indicate that the mutations were named according to the nomenclature recommended by Human Genome Variation Society (HGVS) and the double asterisk signifies that the mutations were named according to the human PAX6 allelic variant database. The sharp (hash mark) means all signs were present in both eyes but corneal dystrophy was only observed in the left eye of the individual AN181.
Sequence variations Age Clinical ----------------------- ID (years) Gender Inheritance manifestation Exon HGVS* Database** Effect ----- ------- ------ ----------- ------------- ---- ---------- ---------- -------- AN233 12 M Sporadic Aniridia, e5 c.120C>A c.482C>A Cys40X congenital cataract, ectopia lentis AN252 1 M AD Partial i5 c.141+1G>A IVS5+1G>A Loss of aniridia splicing donor AN14 7 M AD aniridia i5b c.184-3C>G IVS5b-3C>G Loss of splicing acceptor AN188 7 M Sporadic Aniridia, e7 c.542C>A c.862C>A Ser181X foveal hypoplasia, strabismus AN181 1 F Sporadic Aniridia, e7 c.562C>T c.882C>T Gln188X corneal dystrophy# |