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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Clinical features of SMARCA2 duplication overlap with Coffin–Siris syndrome
American Journal of Medical Genetics, Part A, Volume 170, No. 10, Year 2016
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Description
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.
Authors & Co-Authors
Miyake, Noriko
Japan, Yokohama
Graduate School of Medicine
Abdel-Salam, Ghada M.H.
Egypt, Giza
National Research Centre
Yamagata, Takanori
Japan, Kawachi District
Jichi Medical University
Eid, Maha Mohamed
Egypt, Giza
National Research Centre
Osaka, Hitoshi
Japan, Kawachi District
Jichi Medical University
Okamoto, Nobuhiko
Japan, Izumi
Osaka Women's and Children's Hospital
Mohamed, Amal Mahmoud
Egypt, Giza
National Research Centre
Ikeda, Takahiro
Japan, Kawachi District
Jichi Medical University
Afifi, Hanan Hosny
Egypt, Giza
National Research Centre
Piard, Juliette
France, Besancon
Université de Franche-comté
Van-Maldergem, Lionel
France, Besancon
Université de Franche-comté
Mizuguchi, Takeshi
Japan, Yokohama
Graduate School of Medicine
Miyatake, Satoko
Japan, Yokohama
Graduate School of Medicine
Tsurusaki, Yoshinori
Japan, Yokohama
Graduate School of Medicine
Matsumoto, Naomichi
Japan, Yokohama
Graduate School of Medicine
Statistics
Citations: 15
Authors: 15
Affiliations: 5
Identifiers
Doi:
10.1002/ajmg.a.37778
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Disability
Genetics And Genomics
Health System And Policy