Full Text:   <1644>

Summary:  <1531>

CLC number: R758.66

On-line Access: 2015-11-04

Received: 2015-04-08

Revision Accepted: 2015-07-06

Crosschecked: 2015-10-21

Cited: 2

Clicked: 3868

Citations:  Bibtex RefMan EndNote GB/T7714

 ORCID:

Jin-li Bai

http://orcid.org/0000-0002-7601-9213

Fang Song

http://orcid.org/0000-0002-8844-1331

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Journal of Zhejiang University SCIENCE B 2015 Vol.16 No.11 P.957-962

http://doi.org/10.1631/jzus.B1500080


A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome


Author(s):  Ying Gao, Jin-li Bai, Xiao-yan Liu, Yu-jin Qu, Yan-yan Cao, Jian-cai Wang, Yu-wei Jin, Hong Wang, Fang Song

Affiliation(s):  Capital Institute of Pediatrics, Beijing 100020, China

Corresponding email(s):   sunshine046000@163.com, songf_558@263.net

Key Words:  Kindler syndrome, FERMT1 gene, Mutation


Ying Gao, Jin-li Bai, Xiao-yan Liu, Yu-jin Qu, Yan-yan Cao, Jian-cai Wang, Yu-wei Jin, Hong Wang, Fang Song. A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome[J]. Journal of Zhejiang University Science B, 2015, 16(11): 957-962.

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author="Ying Gao, Jin-li Bai, Xiao-yan Liu, Yu-jin Qu, Yan-yan Cao, Jian-cai Wang, Yu-wei Jin, Hong Wang, Fang Song",
journal="Journal of Zhejiang University Science B",
volume="16",
number="11",
pages="957-962",
year="2015",
publisher="Zhejiang University Press & Springer",
doi="10.1631/jzus.B1500080"
}

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%T A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome
%A Ying Gao
%A Jin-li Bai
%A Xiao-yan Liu
%A Yu-jin Qu
%A Yan-yan Cao
%A Jian-cai Wang
%A Yu-wei Jin
%A Hong Wang
%A Fang Song
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A1 - Yu-jin Qu
A1 - Yan-yan Cao
A1 - Jian-cai Wang
A1 - Yu-wei Jin
A1 - Hong Wang
A1 - Fang Song
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DOI - 10.1631/jzus.B1500080


Abstract: 
kindler syndrome (KS; OMIM 173650) is a rare autosomal recessive skin disorder, which results in symptoms including blistering, epidermal atrophy, increased risk of cancer, and poor wound healing. The majority of mutations of the disease-determining gene (FERMT1 gene) are single nucleotide substitutions, including missense mutations, nonsense mutations, etc. Large deletion mutations are seldom reported. To determine the mutation in the FERMT1 gene associated with a 7-year-old Chinese patient who presented clinical manifestation of KS, we performed direct sequencing of all the exons of FERMT1 gene. For the exons 2–6 without amplicons, we analyzed the copy numbers using quantitative real-time polymerase chain reaction (qRT-PCR) with specific primers. The deletion breakpoints were sublocalized and the range of deletion was confirmed by PCR and direct sequencing. In this study, we identified a new 17-kb deletion mutation spanning the introns 1–6 of FERMT1 gene in a Chinese patient with severe KS phenotypes. Her parents were carriers of the same mutation. Our study reported a newly identified large deletion mutation of FERMT1 gene involved in KS, which further enriched the mutation spectrum of the FERMT1 gene.

Kindler综合征患儿一例:FERMT1基因新大片段纯合缺失突变

目的:Kindler综合征(Kindler syndrome,KS;OMIM 173650),又称伴大疱的先天性皮肤异色症,是一种罕见的常染色体隐性遗传性皮肤病,其致病基因为编码Fermitin家族同源物1蛋白的FERMT1基因。本研究旨在对一例临床诊断为KS的患儿及其父母进行FERMT1基因突变分析。
创新点:本研究中的KS病例为FERMT1基因新纯合缺失突变所致,为目前证实缺失范围最大的病例。
方法:经知情同意后,采集一例患儿及父母外周血。首先利用Sanger测序检测患儿FERMT1基因所有外显子(外显子1~15)及两侧内含子区域;随后利用实时定量聚合酶链式反应(qRT-PCR)测定部分外显子(外显子1、2~7、14和15)的拷贝数,最终通过PCR和测序方法确定患儿FERMT1基因的断裂位点。
结论:本研究报告了一例FERMT1基因新大片段纯合缺失(17 252 bp 纯合缺失)所致的KS(图1~3),扩展了该基因突变数据库。同时,本研究提示该疾病的基因诊断方法不应局限于常规DNA外显子测序,应综合多种方法进行突变分析,以防止大片段缺失病例的漏检。

关键词:Kindler综合征;FERMT1基因;突变

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