Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

Arezoo MohajeriMaryam Vaseghi-ShanjaniJill A RosenfeldGui Xiang YangHenry LuMehul SharmaSusan LinAreesha SalmanMeriam WaqasMahshid Sababi AzamianKim C WorleyKate L Del BelFrederick K KozakRonak RahmanianCatherine M BiggsKyla J HildebrandSeema R LalaniSarah K NicholasDaryl A ScottSara MostafaviClara van KarnebeekErika HenkelmanJessica HalparinConnie L YangLinlea Armstrongnull nullnull nullSuzanne C ToughAnna Lehman

Published in: Journal of medical genetics (2023)

variants. These variants cause a novel genetic syndrome characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

Keyphrases

copy number
hearing loss
genome wide
acute lymphoblastic leukemia
dna methylation
gene expression