Oculofaciocardiodental syndrome caused by a novel BCOR variant

Autor: 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
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
Druh dokumentu: article
ISSN: 2054-345X
DOI: 10.1038/s41439-023-00244-x
Popis: 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.
Databáze: Directory of Open Access Journals