[HTML][HTML] Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
KA Williamson, HN Hall, LJ Owen, BJ Livesey… - Genetics in …, 2020 - Elsevier
Purpose Most classical aniridia is caused by PAX6 haploinsufficiency. PAX6 missense
variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that missense
variants also cause previously undescribed disease by altering the affinity and/or specificity
of PAX6 genomic interactions. Methods We screened PAX6 in 372 individuals with bilateral
microphthalmia, anophthalmia, or coloboma (MAC) from the Medical Research Council
Human Genetics Unit eye malformation cohort (HGU eye) and reviewed data from the …
variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that missense
variants also cause previously undescribed disease by altering the affinity and/or specificity
of PAX6 genomic interactions. Methods We screened PAX6 in 372 individuals with bilateral
microphthalmia, anophthalmia, or coloboma (MAC) from the Medical Research Council
Human Genetics Unit eye malformation cohort (HGU eye) and reviewed data from the …
