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A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis.

作者信息

Li Jiaxin, Wang Yuqian, Zhu Xiaohui, Nie Yanli, Kuo Ying, Guan Shuo, Huang Jin, Lian Ying, Zhao Yangyu, Li Rong, Wei Yuan, Qiao Jie, Yan Liying

机构信息

Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China.

Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China; Key Laboratory of Assisted Reproduction, Ministry of Education, Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China.

出版信息

J Genet Genomics. 2020 May 20;47(5):281-284. doi: 10.1016/j.jgg.2020.03.007. Epub 2020 May 8.

DOI:10.1016/j.jgg.2020.03.007
PMID:32747207
Abstract
摘要

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A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis.一种与先天性挛缩性蜘蛛指相关的FBN2新致病突变用于植入前基因诊断。
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Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2.由 FBN2 中的双等位致病性变异引起的严重先天性挛缩性蜘蛛指（趾）畸形。
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[Pathological variant of FBN2 gene identified in a pedigree affected with congenital contracture arachnodactyly].[在一个患有先天性挛缩性蜘蛛指（趾）症的家系中鉴定出的FBN2基因的病理性变异]
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引用本文的文献

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Missense variants of associated with congenital arachnodactyly in three Chinese families.三个中国家庭中与先天性蜘蛛指（趾）症相关的错义变体。
Mol Genet Metab Rep. 2024 Sep 9;41:101140. doi: 10.1016/j.ymgmr.2024.101140. eCollection 2024 Dec.
2
A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly.一个中国先天性蜘蛛指（趾）综合征家系 FBN2 基因的新剪接位点突变。
Biochem Genet. 2024 Aug;62(4):2495-2503. doi: 10.1007/s10528-023-10550-2. Epub 2023 Nov 14.