<scp>Coffin‐Siris</scp> syndrome with bilateral macular dysplasia caused by a novel exonic deletion in <scp><i>ARID1B</i></scp>

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  • Takako Fujita
    Department of Pediatrics, School of Medicine Fukuoka University Fukuoka Japan
  • Yukiko Ihara
    Department of Pediatrics, School of Medicine Fukuoka University Fukuoka Japan
  • Hitomi Hayashi
    Department of Pediatrics, School of Medicine Fukuoka University Fukuoka Japan
  • Atsushi Ishii
    Department of Pediatrics, School of Medicine Fukuoka University Fukuoka Japan
  • Hiroshi Ideguchi
    Department of Pediatrics, School of Medicine Fukuoka University Fukuoka Japan
  • Takahito Inoue
    Department of Pediatrics, School of Medicine Fukuoka University Fukuoka Japan
  • Taichi Imaizumi
    Department of Pediatrics, School of Medicine St. Marianna Medical University Tokyo Japan
  • Toshiyuki Yamamoto
    Institute of Medical Genetics Tokyo Women's Medical University Tokyo Japan
  • Shinichi Hirose
    Department of Pediatrics, School of Medicine Fukuoka University Fukuoka Japan

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Abstract

<jats:title>Abstract</jats:title><jats:p>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 (<jats:italic>ARID1B</jats:italic>), a gene responsible for CSS. Genomic copy number analysis can aid in diagnosing CSS by confirming undiagnosed exonic deletions in <jats:italic>ARID1B</jats:italic>. Furthermore, this is the first report of CSS associated with bilateral macular dysplasia.</jats:p>

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