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#

Wang, Mol Vis 2006; 12:644-648 <http://www.molvis.org/molvis/v12/a72/>
©2006 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535