Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, Chatron N, Chrzanowska K, Codina-Solà M, Colson C, Cuscó I, Denommé-Pichon AS, Edery P, Faivre L, Green A, Heide S, Hsieh TC, Hustinx A, Kleinendorst L, Knopp C, Kraft F, Krawitz PM, Lasa-Aranzasti A, Lesca G, López-González V, Maraval J, Mignot C, Neuhann T, Netzer C, Oehl-Jaschkowitz B, Petit F, Philippe C, Posmyk R, Putoux A, Reis A, Sánchez-Soler MJ, Suh J, Tkemaladze T, Tran Mau Them F, Travessa A, Trujillano L, Valenzuela I, van Haelst MM, Vasileiou G, Vincent-Delorme C, Walther M, Verde P, Bramswig NC, Wieczorek D (2023)

Publication Type: Journal article

Publication year: 2023

Journal

DOI: 10.1007/s00439-023-02622-5

Abstract

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.

Authors with CRIS profile

Involved external institutions

Hospital Clínico Universitario Virgen de la Arrixaca Spain (ES) Hospices Civils de Lyon (CHU) France (FR) Université de Bourgogne (uB) / University of Burgundy / University of Dijon France (FR) University College Dublin (UCD) Ireland (IE) Pitié-Salpêtrière University Hospital / Hôpital universitaire Pitié-Salpêtrière France (FR) Universitätsklinikum Bonn Germany (DE) Amsterdam University Medical Centers (Amsterdam UMC) / Amsterdam Universitair Medische Centra Netherlands (NL) Universitätsklinikum Aachen (UKA) Germany (DE) Vall d'Hebron University Hospital / Hospital Universitari Vall d'Hebron Spain (ES) Universitätsklinikum Düsseldorf Germany (DE) Centre Hospitalier Régional Universitaire de Lille (CHRU de Lille) France (FR) Medical University of Bialystok Poland (PL) Children's Memorial Health Institute / Instytut "Pomnik - Centrum Zdrowia Dziecka" Poland (PL) University of Lisbon / Universidade de Lisboa (ULisboa) Portugal (PT) Heinrich-Heine-Universität Düsseldorf Germany (DE) Tbilisi State Medical University Georgia (GE) LMU Klinikum Germany (DE) Universitätsklinikum Köln Germany (DE)

How to cite

APA:

Schmetz, A., Lüdecke, H.J., Surowy, H., Sivalingam, S., Bruel, A.L., Caumes, R.,... Wieczorek, D. (2023). Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals. Human genetics. https://doi.org/10.1007/s00439-023-02622-5

MLA:

Schmetz, Ariane, et al. "Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals." Human genetics (2023).

BibTeX: Download