Oculofaciocardiodental syndrome caused by a novel BCOR variant

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...

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Bibliographic Details
Published in:Human genome variation 2023-06, Vol.10 (1), p.18-4, Article 18
Main Authors: Yamashita, Tomoyo, Hotta, Junko, Jogu, Yukiko, Sakai, Eri, Ono, Chie, Bamba, Haruka, Suzuki, Hisato, Yamada, Mamiko, Takenouchi, Toshiki, Kosaki, Kenjiro, Yorifuji, Tohru, Hamazaki, Takashi, Seto, Toshiyuki
Format: Article
Language:English
Subjects:
631/208/135
631/208/726/649/2219
Amino acids
Bcl-6 protein
Biomedical and Life Sciences
Biomedicine
Cardiovascular disease
Cataracts
Congenital diseases
Data Report
Ears & hearing
Gene Expression
Gene Function
Gene Therapy
Genetic counseling
Genetics
Genomes
Heart diseases
Human Genetics
Intellectual disabilities
Medicine
Molecular Medicine
Mutation
Pediatrics
Proteins
Syndactyly
Teeth
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Summary: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.
ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-023-00244-x