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Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

Authors :
Miyake N
Abdel-Salam G
Yamagata T
Eid MM
Osaka H
Okamoto N
Mohamed AM
Ikeda T
Afifi HH
Piard J
van Maldergem L
Mizuguchi T
Miyatake S
Tsurusaki Y
Matsumoto N
Source :
American journal of medical genetics. Part A [Am J Med Genet A] 2016 Oct; Vol. 170 (10), pp. 2662-70. Date of Electronic Publication: 2016 Jun 05.
Publication Year :
2016

Abstract

Coffin-Siris syndrome is a rare congenital malformation and intellectual disability syndrome. Mutations in at least seven genes have been identified. Here, we performed copy number analysis in 37 patients with features of CSS in whom no causative mutations were identified by exome sequencing. We identified a patient with a 9p24.3-p22.2 duplication and another patient with the chromosome der(6)t(6;9)(p25;p21)mat. Both patients share a duplicated 15.8-Mb region containing 46 protein coding genes, including SMARCA2. Dominant negative effects of SMARCA2 mutations may contribute to Nicolaides-Baraitser syndrome. We conclude that their features better resemble Coffin-Siris syndrome, rather than Nicolaides-Baraitser syndrome and that these features likely arise from SMARCA2 over-dosage. Pure 9p duplications (not caused by unbalanced translocations) are rare. Copy number analysis in patients with features that overlap with Coffin-Siris syndrome is recommended to further determine their genetic aspects. © 2016 Wiley Periodicals, Inc.<br /> (© 2016 Wiley Periodicals, Inc.)

Details

Language :
English
ISSN :
1552-4833
Volume :
170
Issue :
10
Database :
MEDLINE
Journal :
American journal of medical genetics. Part A
Publication Type :
Academic Journal
Accession number :
27264538
Full Text :
https://doi.org/10.1002/ajmg.a.37778