Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

被引：6

作者：

Mehar, Virendra ^{[1
]}

Yadav, Dinesh ^{[1
]}

Kumar, Ravindra ^{[2
]}

Yadav, Summi ^{[3
]}

Singh, Kuldeep ^{[1
]}

Callewaert, Bert ^{[4
]}

Pathan, Shahnawaz ^{[1
]}

De Paepe, Anne ^{[4
]}

Coucke, Paul J. ^{[4
]}

机构：

[1] Sri Aurobindo Inst Med Sci, Dept Pediat, Div Neonatol, Indore, Madhya Pradesh, India

[2] Sri Aurobindo Inst Med Sci, Cent Res Lab, Indore, Madhya Pradesh, India

[3] Sri Aurobindo Inst Med Sci, Dept Gynaecol, Indore, Madhya Pradesh, India

[4] Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium

来源：

JOURNAL OF PEDIATRIC GENETICS | 2014年 / 3卷 / 03期

关键词：

Beals syndrome; congenital contractures; fibrillin-2; novel mutation;

D O I：

10.3233/PGE-14093

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Congenital contractural arachnodactyly is a rare autosomal dominant disorder characterized by crumpled ears, congenital contractures, arachnodactyly and scoliosis. Only few cases have been described to date. Here we report a newborn with congenital contractures, crumpled ears and scoliosis. Molecular analysis revealed a novel fibrillin-2 mutation at the donor splice site of intron 28. We discuss the differential diagnosis of neonates with congenital contractures and review the current knowledge on congenital contractural arachnodactyly.

引用

页码：163 / 166

页数：4

共 50 条

[1] A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly
Zhang, Cuiping
Qiao, Fengchang
Cheng, Qing
Luo, Chunyu
Zhang, Qinxin
Hu, Ping
Xu, Zhengfeng
BIOCHEMICAL GENETICS, 2023, 62 (4) : 2495 - 2503
[2] 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
[3] 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):
[4] 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
[5] 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
[6] FIBRILLIN-2 (FBN2) MUTATION IN CONGENITAL CONTRACTURAL ARACHNODACTYLY
WANG, M
TSIPOURAS, P
GODFREY, M
AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1339 - 1339
[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] 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
[9] 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
[10] A Novel Mutation (C1425Y) in the FBN2 Gene in a Father and Son with Congenital Contractural Arachnodactyly
Chen, Ying
Lei, Yun-Ping
Zheng, Hong-Xiang
Wang, Wei
Cheng, Hong-Bo
Zhang, Jing
Wang, Hong-Yan
Jin, Li
Li, Hong
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2009, 13 (03) : 295 - 300

← 1 2 3 4 5 →