Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

Küry, S., Ebstein, F., Mollé, A., Besnard, T., Lee, M.-K., Vignard, V., Hery, T., Nizon, M., Mancini, G. M. S., Giltay, J. C., Cogné, B., McWalter, K., Deb, W., Mor-Shaked, H., Li, H., Schnur, R. E., Wentzensen, I. M., Denommé-Pichon, A.-S., Fourgeux, C., … Isidor, B. (2022). Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder. The American Journal of Human Genetics, 109(2), 361–372. https://doi.org/10.1016/j.ajhg.2021.12.011
Authors:
Sébastien Küry
Frédéric Ebstein
Alice Mollé
Thomas Besnard
Ming-Kang Lee
Virginie Vignard
Tiphaine Hery
Mathilde Nizon
Grazia M S Mancini
Jacques C Giltay
Benjamin Cogné
Kirsty McWalter
Wallid Deb
Hagar Mor-Shaked
Hong Li
Rhonda E Schnur
Ingrid M Wentzensen
Anne-Sophie Denommé-Pichon
Cynthia Fourgeux
Frans W Verheijen
Eva Faurie
Rachel Schot
Cathy A Stevens
Daphne J Smits
Eileen Barr
Ruth Sheffer
Jonathan A Bernstein
Chandler L Stimach
Eliana Kovitch
Vandana Shashi
Kelly Schoch
Whitney Smith
Richard H van Jaarsveld
Anna C E Hurst
Kirstin Smith
Evan H Baugh
Suzanne G Bohm
Emílie Vyhnálková
Lukáš Ryba
Capucine Delnatte
Juanita Neira
Dominique Bonneau
Annick Toutain
Jill A Rosenfeld
Séverine Audebert-Bellanger
Brigitte Gilbert-Dussardier
Sylvie Odent
Frédéric Laumonnier
Seth I Berger
Ann C M Smith
Franck Bourdeaut
Marc-Henri Stern
Richard Redon
Elke Krüger
Raphaël Margueron
Stéphane Bézieau
Jeremie Poschmann
Bertrand Isidor
Affiliated Authors:
Evan H Baugh
Columbia Affiliation:
Subjects:
BRCA1 Protein (MeSH)
Germ-Line Mutation (MeSH)
Loss of Function Mutation (MeSH)
Mutation, Missense (MeSH)
Neurodevelopmental Disorders (MeSH)
Tumor Suppressor Proteins (MeSH)
Ubiquitin Thiolesterase (MeSH)
Author Keywords:
bap1
brca1
ups
cancer
chromatin remodeling
deubiquitination
histone 2a
intellectual disability
neurodevelopment
tumor
ubiquitin
ubiquitin-proteasome system
elink
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2021.12.011
PMID:
35051358
DOI:
10.1016/j.ajhg.2021.12.011
Journal:
American Journal of Human Genetics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created: