Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains
E Cross, PJ Duncan-Flavell, RJ Howarth… - European journal of …, 2020 - Elsevier
Pathogenic variants within PAX6 are most often associated with aniridia, but have been
linked with other phenotypes such as nystagmus, cataracts and foveal hypoplasia. Data are
presented from a large cohort of 434 probands referred for PAX6 diagnostic testing. This
analysis identified a wide range of pathogenic variants (n= 145) in 254 probands (including
61 novel variants). Excluding missense variants predicted to affect splicing, all 29 of the
remaining missense variants were located within the paired (n= 27) or homeobox (n= 2) …
linked with other phenotypes such as nystagmus, cataracts and foveal hypoplasia. Data are
presented from a large cohort of 434 probands referred for PAX6 diagnostic testing. This
analysis identified a wide range of pathogenic variants (n= 145) in 254 probands (including
61 novel variants). Excluding missense variants predicted to affect splicing, all 29 of the
remaining missense variants were located within the paired (n= 27) or homeobox (n= 2) …
