Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B |
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| Authors: | Takako Fujita Yukiko Ihara Hitomi Hayashi Atsushi Ishii Hiroshi Ideguchi Takahito Inoue Taichi Imaizumi Toshiyuki Yamamoto Shinichi Hirose |
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| Institution: | 1. Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan;2. Department of Pediatrics, School of Medicine, St. Marianna Medical University, Tokyo, Japan;3. Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan |
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| Abstract: | Coffin-Siris syndrome (CSS) is a congenital anomaly syndrome characterized by developmental delay, coarse facial features, and hypoplasia of the fifth digit's nail or phalanges. Herein, we report a case of the 8-year-old female patient who showed developmental delay associated with dysplasia in the macular and large toe area. Comprehensive genomic analysis showed no possible candidate variants, but the subsequent genomic copy number analysis revealed a novel exonic deletion in the coding region of AT-rich interactive domain-containing protein 1B (ARID1B), a gene responsible for CSS. Genomic copy number analysis can aid in diagnosing CSS by confirming undiagnosed exonic deletions in ARID1B. Furthermore, this is the first report of CSS associated with bilateral macular dysplasia. |
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| Keywords: | ARID1B Coffin-Siris syndrome exonic deletion macular dysplasia |
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