Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

Date publication

juillet 2022

Journal

Genetics in medicine : official journal of the American College of Medical Genetics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence

Tous les auteurs :
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/35833929

Résumé

Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11 missense variants.

Mots clés

ANKRD11, Genotype–phenotype study, KBG syndrome, Missense variants, Neurodevelopmental disorders

Référence

Genet Med. 2022 07 13;: