De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome

De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome

Abstract Background Coffin–Siris syndrome is an extremely rare syndrome associated with developmental and congenital anomalies. It is caused by heterozygous pathogenic variants of ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, and SOX11. Methods This case study presents the whole exome sequencing of a p...

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Bibliographic Details
Main Authors: Laura Pranckėnienė, Evelina Siavrienė, Lucie Gueneau, Eglė Preikšaitienė, Violeta Mikštienė, Alexandre Reymond, Vaidutis Kučinskas
Format: Article
Language:English
Published: Wiley 2019-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ARID1B
cDNA functional analysis
Coffin–Siris syndrome
de novo splice site variant
intellectual disability
skipping of exon 19
Online Access:https://doi.org/10.1002/mgg3.1006

Internet

https://doi.org/10.1002/mgg3.1006

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