一名先天性挛缩性蛛网膜畸形患者的 FBN2 新变异体。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2024-02-08 DOI:10.1038/s41439-024-00264-1

Mina Nakama, Yuki Miwa, Sayaka Manabe, Shigeru Shimamoto, Hidenori Ohnishi

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引用次数: 0

摘要

先天性挛缩性蛛网膜挛缩症（CCA）是一种遗传性结缔组织疾病，其特征是蛛网膜挛缩、脊柱后凸、马凡氏体型和耳朵皱缩。我们报告了一例疑似马凡综合征的男孩。基因分析显示，纤连蛋白-2（FBN2）基因的杂合子形式为 c.3207_3217+9del。根据其表型，该患者被诊断为 CCA，并根据 cDNA 分析和蛋白质模型对该变异的致病性进行了分类。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Novel variant of FBN2 in a patient with congenital contractual arachnodactyly.

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Novel variant of FBN2 in a patient with congenital contractual arachnodactyly.

Congenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis, marfanoid habitus, and crumpled ears. We report a case of a boy with suspected Marfan syndrome. Genetic analysis revealed c.3207_3217+9del in a heterozygote form of the fibrillin-2 (FBN2) gene. This patient was diagnosed with CCA based on his phenotype, and the pathogenicity of this variant was classified according to cDNA analysis and protein modeling.

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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