Oculofaciocardiodental syndrome caused by a novel BCOR variant

Tomoyo Yamashita; Junko Hotta; Yukiko Jogu; Eri Sakai; Chie Ono; Haruka Bamba; Hisato Suzuki; Mamiko Yamada; Toshiki Takenouchi; Kenjiro Kosaki; Tohru Yorifuji; Takashi Hamazaki; Toshiyuki Seto

doi:10.1038/s41439-023-00244-x

Oculofaciocardiodental syndrome caused by a novel BCOR variant

Hum Genome Var. 2023 Jun 12;10(1):18. doi: 10.1038/s41439-023-00244-x.

Authors

Tomoyo Yamashita^{1

2}, Junko Hotta^{1

2}, Yukiko Jogu¹, Eri Sakai¹, Chie Ono¹, Haruka Bamba¹, Hisato Suzuki³, Mamiko Yamada³, Toshiki Takenouchi⁴, Kenjiro Kosaki³, Tohru Yorifuji⁵, Takashi Hamazaki², Toshiyuki Seto^{6

7}

Affiliations

¹ Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
² Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
³ Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
⁴ Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
⁵ Division of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.
⁶ Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan. setot@omu.ac.jp.
⁷ Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan. setot@omu.ac.jp.

Abstract

Oculofaciocardiodental syndrome is caused by variants in the BCL6 corepressor (BCOR) gene. We identified a novel heterozygous frameshift variant, NM_001123385.2(BCOR):c.2326del, that arose de novo in a Japanese girl with characteristic facial features, congenital heart disease, bilateral syndactyly of toes 2 and 3, congenital cataracts, dental abnormalities, and mild intellectual disability. Reports of BCOR variants are rare, and further case accumulation is warranted.