Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

Kathleen A WilliamsonH Nikki HallLiusaidh J OwenBenjamin J LiveseyIsabel M HansonG G W AdamsSimon BodekPatrick CalvasBruce CastleMichael ClarkeAlexander T DengPatrick EderyRichard FisherGabriele Gillessen-KaesbachElise HeonJane HurstDragana JosifovaBirgit LorenzShane McKeeFrancoise MeireAnthony T MooreMichael ParkerCharlotte M ReiffJay SelfEdward S TobiasJoke B G M VerheijMarjolaine WillemsDenise WilliamsVeronica van HeyningenJoseph A MarshDavid R FitzPatrick

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

Altering the affinity and specificity of PAX6-binding genome-wide provides a plausible mechanism for the worse-than-null effects of MAC-associated missense variants.

Keyphrases

copy number
genome wide
intellectual disability
early onset
dna methylation
binding protein
cell free
protein protein
case report
gene expression
capillary electrophoresis