TY - JOUR
T1 - Understanding the new BRD4-related syndrome
T2 - Clinical and genomic delineation with an international cohort study
AU - Jouret, Guillaume
AU - Heide, Solveig
AU - Sorlin, Arthur
AU - Faivre, Laurence
AU - Chantot-Bastaraud, Sandra
AU - Beneteau, Claire
AU - Denis-Musquer, Marie
AU - Turnpenny, Peter D.
AU - Coutton, Charles
AU - Vieville, Gaëlle
AU - Thevenon, Julien
AU - Larson, Austin
AU - Petit, Florence
AU - Boudry, Elise
AU - Smol, Thomas
AU - Delobel, Bruno
AU - Duban-Bedu, Bénédicte
AU - Fallerini, Chiara
AU - Mari, Francesca
AU - Lo Rizzo, Caterina
AU - Renieri, Alessandra
AU - Caberg, Jean Hubert
AU - Denommé-Pichon, Anne Sophie
AU - Tran Mau-Them, Frédéric
AU - Maystadt, Isabelle
AU - Courtin, Thomas
AU - Keren, Boris
AU - Mouthon, Linda
AU - Charles, Perrine
AU - Cuinat, Silvestre
AU - Isidor, Bertrand
AU - Theis, Philippe
AU - Müller, Christian
AU - Kulisic, Marizela
AU - Türkmen, Seval
AU - Stieber, Daniel
AU - Bourgeois, Dominique
AU - Scalais, Emmanuel
AU - Klink, Barbara
N1 - Publisher Copyright:
© 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
PY - 2022/8
Y1 - 2022/8
N2 - BRD4 is part of a multiprotein complex involved in loading the cohesin complex onto DNA, a fundamental process required for cohesin-mediated loop extrusion and formation of Topologically Associating Domains. Pathogenic variations in this complex have been associated with a growing number of syndromes, collectively known as cohesinopathies, the most classic being Cornelia de Lange syndrome. However, no cohort study has been conducted to delineate the clinical and molecular spectrum of BRD4-related disorder. We formed an international collaborative study, and collected 14 new patients, including two fetuses. We performed phenotype and genotype analysis, integrated prenatal findings from fetopathological examinations, phenotypes of pediatric patients and adults. We report the first cohort of patients with BRD4-related disorder and delineate the dysmorphic features at different ages. This work extends the phenotypic spectrum of cohesinopathies and characterize a new clinically relevant and recognizable pattern, distinguishable from the other cohesinopathies.
AB - BRD4 is part of a multiprotein complex involved in loading the cohesin complex onto DNA, a fundamental process required for cohesin-mediated loop extrusion and formation of Topologically Associating Domains. Pathogenic variations in this complex have been associated with a growing number of syndromes, collectively known as cohesinopathies, the most classic being Cornelia de Lange syndrome. However, no cohort study has been conducted to delineate the clinical and molecular spectrum of BRD4-related disorder. We formed an international collaborative study, and collected 14 new patients, including two fetuses. We performed phenotype and genotype analysis, integrated prenatal findings from fetopathological examinations, phenotypes of pediatric patients and adults. We report the first cohort of patients with BRD4-related disorder and delineate the dysmorphic features at different ages. This work extends the phenotypic spectrum of cohesinopathies and characterize a new clinically relevant and recognizable pattern, distinguishable from the other cohesinopathies.
KW - BRD4
KW - BRD4-related syndrome
KW - Cornelia de Lange syndrome
KW - NIPBL
KW - cohesinopathy
UR - http://www.scopus.com/inward/record.url?scp=85128726433&partnerID=8YFLogxK
U2 - 10.1111/cge.14141
DO - 10.1111/cge.14141
M3 - Article
C2 - 35470444
AN - SCOPUS:85128726433
SN - 0009-9163
VL - 102
SP - 117
EP - 122
JO - Clinical Genetics
JF - Clinical Genetics
IS - 2
ER -