患有先天性关节突眼和翼状胬肉的胎儿中的错义 BICD2 变异。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2024-08-26 DOI:10.1038/s41439-024-00290-z

Layla Masuda, Akihiro Hasegawa, Hiromi Kamura, Fuyuki Hasegawa, Michihiro Yamamura, Kosuke Taniguchi, Yuki Ito, Kenichiro Hata, Osamu Samura, Aikou Okamoto

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引用次数: 0

摘要

2型脊髓性肌萎缩症伴有下肢优势（SMALED2）是由双核D货物适配器2（BICD2）变异引起的。然而，SMALED2 基因型与表型之间的相关性尚未得到深入研究。我们在两个产前诊断为重度多发性先天性关节发育不良的胎儿中发现了新发杂合BICD2错义变体。本报告进一步揭示了这种罕见疾病的遗传学。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.

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Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.

Type 2 spinal muscular atrophy with lower extremity dominance (SMALED2) is caused by bicaudal D cargo adaptor 2 (BICD2) variants. However, the SMALED2 genotype and phenotype correlation have not been thoroughly characterized. We identified de novo heterozygous BICD2 missense variants in two fetuses with severe, prenatally diagnosed multiple arthrogryposis congenita. This report provides further insights into the genetics of this rare disease.

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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