Title :

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Author(s) :

Schmetz, A. [Auteur]
University Hospital Düsseldorf
Lüdecke, H. J. [Auteur]
University Hospital Düsseldorf
Surowy, H. [Auteur]
Sivalingam, S. [Auteur]
Bruel, A. L. [Auteur]
Caumes, R. [Auteur]
Charles, P. [Auteur]
Chatron, N. [Auteur]
Chrzanowska, K. [Auteur]
Codina-Solà, M. [Auteur]
Colson, C. [Auteur]
Cuscó, I. [Auteur]
Denommé-Pichon, A. S. [Auteur]
Edery, P. [Auteur]
Faivre, L. [Auteur]
Green, A. [Auteur]
Heide, S. [Auteur]
Hsieh, T. C. [Auteur]
Hustinx, A. [Auteur]
Kleinendorst, L. [Auteur]
Knopp, C. [Auteur]
Kraft, F. [Auteur]
Krawitz, P. M. [Auteur]
Lasa-Aranzasti, A. [Auteur]
Lesca, G. [Auteur]
López-González, V. [Auteur]
Maraval, J. [Auteur]
Mignot, C. [Auteur]
Neuhann, T. [Auteur]
Netzer, C. [Auteur]
Oehl-Jaschkowitz, B. [Auteur]
Petit, Florence [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Philippe, C. [Auteur]
Posmyk, R. [Auteur]
Putoux, A. [Auteur]
Reis, A. [Auteur]
Sánchez-Soler, M. J. [Auteur]
Suh, J. [Auteur]
Tkemaladze, T. [Auteur]
Tran Mau Them, F. [Auteur]
Travessa, A. [Auteur]
Trujillano, L. [Auteur]
Valenzuela, I. [Auteur]
Van Haelst, M. M. [Auteur]
Vasileiou, G. [Auteur]
Vincent-Delorme, C. [Auteur]
Walther, M. [Auteur]
Verde, P. [Auteur]
Bramswig, N. C. [Auteur]
University Hospital Düsseldorf
Wieczorek, D. [Auteur]
University Hospital Düsseldorf

Journal title :

Human Genetics

Abbreviated title :

Hum Genet

Volume number :

143

Pages :

71-84

Publisher :

Springer Link

Publication date :

2023-12-20

ISSN :

1432-1203

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Coffin–Siris syndrome (CSS) is a rare multisystemic autosomal dominant disorder. Since 2012, alterations in genes of the SWI/SNF complex were identified as the molecular basis of CSS, studying largely pediatric cohorts. ...
Show more >Coffin–Siris syndrome (CSS) is a rare multisystemic autosomal dominant disorder. Since 2012, alterations in genes of the SWI/SNF complex were identified as the molecular basis of CSS, studying largely pediatric cohorts. Therefore, there is a lack of information on the phenotype in adulthood, particularly on the clinical outcome in adulthood and associated risks. In an international collaborative effort, data from 35 individuals ≥ 18 years with a molecularly ascertained CSS diagnosis (variants in ARID1B, ARID2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11, BICRA) using a comprehensive questionnaire was collected. Our results indicate that overweight and obesity are frequent in adults with CSS. Visual impairment, scoliosis, and behavioral anomalies are more prevalent than in published pediatric or mixed cohorts. Cognitive outcomes range from profound intellectual disability (ID) to low normal IQ, with most individuals having moderate ID. The present study describes the first exclusively adult cohort of CSS individuals. We were able to delineate some features of CSS that develop over time and have therefore been underrepresented in previously reported largely pediatric cohorts, and provide recommendations for follow-up.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
CHU Lille

Collections :

• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Submission date :

2024-02-29T00:01:24Z
2024-06-19T08:56:24Z
2024-06-19T09:05:49Z