由一种新型 BCOR 变异体引起的眼心血管综合征。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2023-06-12 DOI:10.1038/s41439-023-00244-x

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

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引用次数: 0

摘要

眼耳鼻咽喉综合征是由 BCL6 corepressor (BCOR) 基因变异引起的。我们在一名日本女孩身上发现了一个新的杂合子换框变异基因 NM_001123385.2(BCOR):c.2326del，该变异基因从头产生，该女孩具有特征性面部特征、先天性心脏病、双侧第 2 和第 3 趾联合畸形、先天性白内障、牙齿畸形和轻度智力障碍。BCOR变异型的报告非常罕见，需要进一步积累病例。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Oculofaciocardiodental syndrome caused by a novel BCOR variant.

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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 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.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks