Table 1 of
Wang, Mol Vis 2006;
12:644-648.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#
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