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

Journal

Human genetics

ISSN: 1432-1203

Titre abrégé: Hum Genet

Pays: Germany

ID NLM: 7613873

Informations de publication

Date de publication:
20 Dec 2023

Historique:

received: 28 08 2023

accepted: 20 11 2023

medline: 20 12 2023

pubmed: 20 12 2023

entrez: 20 12 2023

Statut: aheadofprint

Résumé

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.

Identifiants

DOI: 10.1007/s00439-023-02622-5 PMID: 38117302

pubmed: 38117302

doi: 10.1007/s00439-023-02622-5

pii: 10.1007/s00439-023-02622-5

doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

Informations de copyright

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