Coffin-Siris syndrome is a SWI/SNF complex disorder

Coffin–Siris syndrome (CSS) is a congenital disorder characterized by intellectual disability, growth deficiency, microcephaly, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails. We previously reported that five genes are mutated in CSS, all of which encode subunits...

Full description

Saved in:
Bibliographic Details
Published in:Clinical genetics 2014-06, Vol.85 (6), p.548-554
Main Authors: Tsurusaki, Y., Okamoto, N., Ohashi, H., Mizuno, S., Matsumoto, N., Makita, Y., Fukuda, M., Isidor, B., Perrier, J., Aggarwal, S., Dalal, A.B., Al-Kindy, A., Liebelt, J., Mowat, D., Nakashima, M., Saitsu, H., Miyake, N.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
ARID1B
Child
Child, Preschool
Chromosomal Proteins, Non-Histone - genetics
Coffin-Siris syndrome
Congenital diseases
DNA Helicases - genetics
DNA-Binding Proteins - genetics
Exome
Face - abnormalities
Face - pathology
Female
Genetic disorders
Hand Deformities, Congenital - diagnosis
Hand Deformities, Congenital - genetics
Hand Deformities, Congenital - pathology
Humans
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Intellectual Disability - pathology
Male
Micrognathism - diagnosis
Micrognathism - genetics
Micrognathism - pathology
Mutation
Neck - abnormalities
Neck - pathology
Nuclear Proteins - genetics
Nucleic Acid Denaturation
Sequence Analysis, DNA
SMARCA4
SMARCB1
SMARCB1 Protein
SWI/SNF ATP-dependent chromatin-remodeling complex
Transcription Factors - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Coffin–Siris syndrome (CSS) is a congenital disorder characterized by intellectual disability, growth deficiency, microcephaly, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails. We previously reported that five genes are mutated in CSS, all of which encode subunits of the switch/sucrose non‐fermenting (SWI/SNF) ATP‐dependent chromatin‐remodeling complex: SMARCB1, SMARCA4, SMARCE1, ARID1A, and ARID1B. In this study, we examined 49 newly recruited CSS‐suspected patients, and re‐examined three patients who did not show any mutations (using high‐resolution melting analysis) in the previous study, by whole‐exome sequencing or targeted resequencing. We found that SMARCB1, SMARCA4, or ARID1B were mutated in 20 patients. By examining available parental samples, we ascertained that 17 occurred de novo. All mutations in SMARCB1 and SMARCA4 were non‐truncating (missense or in‐frame deletion) whereas those in ARID1B were all truncating (nonsense or frameshift deletion/insertion) in this study as in our previous study. Our data further support that CSS is a SWI/SNF complex disorder.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12225