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.

引用

页数：3

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