Oculofaciocardiodental syndrome caused by a novel BCOR variant.

IF 1 Q4 GENETICS & HEREDITY
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

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.

Abstract Image

由一种新型 BCOR 变异体引起的眼心血管综合征。
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。
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来源期刊
Human Genome Variation
Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
2.30
自引率
0.00%
发文量
39
审稿时长
13 weeks
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