Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

Simone SchröderYun LiGökhan YigitJanine AltmüllerIngrid BaderAndrea BevotSaskia BiskupSteffi Dreha-KulaczewskiG Christoph KorenkeRaimund KottkeJohannes A MayrMartin PreiselSandra P ToelleSarah Wente-SchulzSaskia B WortmannHeidi HahnEugen BoltshauserAnja UhmannBernd WollnikKnut Brockmann

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Taken together, our data imply that the clinical phenotype associated with heterozygous truncating germline variants in SUFU is a forme fruste of Joubert syndrome.

Keyphrases

copy number
early onset
electronic health record
big data
dna repair
artificial intelligence
dna damage
oxidative stress
data analysis
optic nerve