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
收藏
页数：3
相关论文
共 50 条
  • [1] A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly
    Liu, Wei
    Zhao, Ning
    Li, Xue-fu
    Wang, Hong
    Sui, Yu
    Lu, Yong-ping
    Feng, Wen-hua
    Ma, Chao
    Han, Wei-tian
    Jiang, Miao
    FEBS OPEN BIO, 2015, 5 : 163 - 166
  • [2] A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly
    Gurler, Abdullah I.
    Yuksel, Zafer
    Karaer, Kadri
    CLINICAL DYSMORPHOLOGY, 2018, 27 (03) : 109 - 111
  • [3] Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly
    Sun, Liying
    Huang, Yingzhao
    Zhao, Sen
    Zhong, Wenyao
    Shi, Jile
    Guo, Yang
    Zhao, Junhui
    Xiong, Ge
    Yin, Yuehan
    Chen, Zefu
    Zhang, Nan
    Zhao, Zongxuan
    Li, Qingyang
    Chen, Dan
    Niu, Yuchen
    Li, Xiaoxin
    Qiu, Guixing
    Wu, Zhihong
    Zhang, Terry Jianguo
    Tian, Wen
    Wu, Nan
    FRONTIERS IN GENETICS, 2022, 13
  • [4] FBN2 mutations in congenital contractural arachnodactyly (CCA).
    Carmical, S
    Gupta, P
    Milewicz, DM
    Putnam, EA
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 399 - 399
  • [5] A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly
    Xu, Peiwen
    Li, Ruirui
    Huang, Sexin
    Sun, Menghan
    Liu, Jiaolong
    Niu, Yuping
    Zou, Yang
    Li, Jie
    Gao, Ming
    Li, Xiaolei
    Gao, Xuan
    Gao, Yuan
    FRONTIERS IN GENETICS, 2020, 11
  • [6] Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene
    Yagi, Hiroki
    Takiguchi, Hiroshi
    Takeda, Norifumi
    Inuzuka, Ryo
    Taniguchi, Yuki
    Porto, Kristine Joyce
    Ishiura, Hiroyuki
    Mitsui, Jun
    Morita, Hiroyuki
    Komuro, Issei
    CLINICAL CASE REPORTS, 2022, 10 (02):
  • [7] A MUTATION IN THE FBN2 GENE IN DERMAL FIBROBLASTS FROM A CONGENITAL CONTRACTURAL ARACHNODACTYLY PATIENT
    PUTNAM, EA
    MILEWICZ, DM
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1301 - 1301
  • [8] FIBRILLIN-2 (FBN2) MUTATION IN CONGENITAL CONTRACTURAL ARACHNODACTYLY
    WANG, M
    TSIPOURAS, P
    GODFREY, M
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1339 - 1339
  • [9] Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene
    Mehar, Virendra
    Yadav, Dinesh
    Kumar, Ravindra
    Yadav, Summi
    Singh, Kuldeep
    Callewaert, Bert
    Pathan, Shahnawaz
    De Paepe, Anne
    Coucke, Paul J.
    JOURNAL OF PEDIATRIC GENETICS, 2014, 3 (03) : 163 - 166
  • [10] Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly
    Lavillaureix, A.
    Heide, S.
    Chantot-Bastaraud, S.
    Marey, I.
    Keren, B.
    Grigorescu, R.
    Jouannic, J. M.
    Gelot, A.
    Whalen, S.
    Heron, D.
    Siffroi, J. P.
    CLINICAL GENETICS, 2017, 92 (05) : 556 - 558
12345