Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Abnormalities, Multiple
/ genetics
Cohort Studies
Face
/ abnormalities
Genetic Association Studies
/ methods
Genetic Predisposition to Disease
/ genetics
Genetic Variation
/ genetics
Hand Deformities, Congenital
/ genetics
Humans
Intellectual Disability
/ genetics
Micrognathism
/ genetics
Neck
/ abnormalities
Journal
Journal of human genetics
ISSN: 1435-232X
Titre abrégé: J Hum Genet
Pays: England
ID NLM: 9808008
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
received:
15
07
2019
accepted:
25
08
2019
revised:
13
08
2019
pubmed:
19
9
2019
medline:
13
3
2020
entrez:
19
9
2019
Statut:
ppublish
Résumé
Coffin-Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability, and hypoplasia of the fifth digit and nails. Pathogenic variants for CSS have been found in genes encoding proteins in the BAF (BRG1-associated factor) chromatin-remodeling complex. To date, more than 150 CSS patients with pathogenic variants in nine BAF-related genes have been reported. We previously reported 71 patients of whom 39 had pathogenic variants. Since then, we have recruited an additional 182 CSS-suspected patients. We performed comprehensive genetic analysis on these 182 patients and on the previously unresolved 32 patients, targeting pathogenic single nucleotide variants, short insertions/deletions and copy number variations (CNVs). We confirmed 78 pathogenic variations in 78 patients. Pathogenic variations in ARID1B, SMARCB1, SMARCA4, ARID1A, SOX11, SMARCE1, and PHF6 were identified in 48, 8, 7, 6, 4, 1, and 1 patients, respectively. In addition, we found three CNVs including SMARCA2. Of particular note, we found a partial deletion of SMARCB1 in one CSS patient and we thoroughly investigated the resulting abnormal transcripts.
Identifiants
pubmed: 31530938
doi: 10.1038/s10038-019-0667-4
pii: 10.1038/s10038-019-0667-4
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1173-1186Subventions
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP19ek0109280, JP19dm0107090, JP19ek0109301, JP19ek0109348, and JP18kk020501
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