Novel variant of FBN2 in a patient with congenital contractual arachnodactyly

被引：0
|
作者：
Nakama, Mina [1 ,2 ]
Miwa, Yuki [2 ]
Manabe, Sayaka [1 ]
Shimamoto, Shigeru [1 ]
Ohnishi, Hidenori [2 ,3 ]
机构：
[1] Kindai Univ, Fac Sci & Engn, Dept Life Sci, Osaka, Japan
[2] Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan
[3] Gifu Univ Hosp, Clin Genet Ctr, Gifu, Japan
来源：
HUMAN GENOME VARIATION | 2024年 / 11卷 / 01期
关键词：
D O I：
10.1038/s41439-024-00264-1
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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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页数：3
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