CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Zarate YA, Uehara T, Abe K, Oginuma M, Harako S, Ishitani S, Lehesjoki AE, Bierhals T, Kloth K, Ehmke N, Horn D, Holtgrewe M, Anderson K, Viskochil D, Edgar-Zarate CL, Sacoto MJG, Schnur RE, Morrow MM, Sanchez-Valle A, Pappas J, Rabin R, Muona M, Anttonen AK, Platzer K, Luppe J, Gburek-Augustat J, Kaname T, Okamoto N, Mizuno S, Kaido Y, Ohkuma Y, Hirose Y, Ishitani T, Kosaki K.
Zarate YA, et al.
Genet Med. 2021 Jun;23(6):1050-1057. doi: 10.1038/s41436-020-01091-9. Epub 2021 Jan 25.
Genet Med. 2021.
PMID: 33495529
Free article.
Functional studies included autophosphorylation assays for CDK19 Gly28Arg and Tyr32His variants and in vivo zebrafish assays of the CDK19(G28R) and CDK19(Y32H). ...CONCLUSION: CDK19 de novo missense variants are responsible for a novel neurodevelopment …
Functional studies included autophosphorylation assays for CDK19 Gly28Arg and Tyr32His variants and in vivo zebrafish assays of the …