Full Text:   <2259>

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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: 4796

Citations:  Bibtex RefMan EndNote GB/T7714


Jin-li Bai


Fang Song


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


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.

@article{title="A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome",
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",
publisher="Zhejiang University Press & Springer",

%0 Journal Article
%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
%J Journal of Zhejiang University SCIENCE B
%V 16
%N 11
%P 957-962
%@ 1673-1581
%D 2015
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.B1500080

T1 - A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome
A1 - Ying Gao
A1 - Jin-li Bai
A1 - Xiao-yan Liu
A1 - Yu-jin Qu
A1 - Yan-yan Cao
A1 - Jian-cai Wang
A1 - Yu-wei Jin
A1 - Hong Wang
A1 - Fang Song
J0 - Journal of Zhejiang University Science B
VL - 16
IS - 11
SP - 957
EP - 962
%@ 1673-1581
Y1 - 2015
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.B1500080

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.


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。
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。


Darkslateblue:Affiliate; Royal Blue:Author; Turquoise:Article


[1]Chen, J.M., Cooper, D.N., Ferec, C., et al., 2010. Genomic rearrangements in inherited disease and cancer. Semin. Cancer Biol., 20(4):222-233.

[2]Has, C., Bruckner-Tuderman, L., 2006. Molecular and diagnostic aspects of genetic skin fragility. J. Dermatol. Sci., 44(3):129-144.

[3]Has, C., Wessagowit, V., Pascucci, M., et al., 2006. Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. J. Invest. Dermatol., 126(8):1776-1783.

[4]Has, C., Yordanova, I., Balabanova, M., et al., 2008. A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome. J. Dermatol. Sci. Dec., 52(3):209-212.

[5]Herz, C., Aumailley, M., Schulte, C., et al., 2006. Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes. J. Biol. Chem., 281(47):36082-36090.

[6]Jobard, F., Bouadjar, B., Caux, F., et al., 2003. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum. Mol. Genet., 12(8):925-935.

[7]Kartal, D., Borlu, M., Has, C., et al., 2015. A novel mutation in the FERMT1 gene in Turkish siblings with Kindler syndrome. J. Eur. Acad. Dermatol. Venereol., in press.

[8]Kern, J., Herz, C., Haan, E., et al., 2007. Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms. J. Pathol., 213(4):462-470.

[9]Kindler, T., 1954. Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br. J. Dermatol., 66(3):104-111.

[10]Lai-Cheong, J.E., Liu, L., Sethuraman, G., et al., 2007. Five new homozygous mutations in the KIND1 gene in Kindler syndrome. J. Invest. Dermatol., 127(9):2268-2270.

[11]Mansur, A.T., Elcioglu, N.H., Aydingoz, I.E., et al., 2007. Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement. Acta Derm. Venereol., 87(6):563-565.

[12]Mas-Vidal, A., Miñones-Suárez, L., Toral, J.F., et al., 2010. A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome. J. Eur. Acad. Dermatol. Venereol., 24(8):978-979.

[13]Sadler, E., Klausegger, A., Muss, W., et al., 2006. Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement. Arch. Dermatol., 142(12):1619-1624.

[14]Schipler, A., Iliakis, G., 2013. DNA double-strand-break complexity levels and their possible contributions to the probability for error-prone processing and repair pathway choice. Nucleic Acids Res., 41(16):7589-7605.

[15]Siegel, D.H., Ashton, G.H., Penagos, H.G., et al., 2003. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am. J. Hum. Genet., 73(1):174-187.

[16]Takeichi, T., Liu, L., Fong, K., et al., 2015. Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. Br. J. Dermatol., 172(1):94-100.

[17]Yates, L.A., Lumb, C.N., Brahme, N.N., et al., 2012. Structural and functional characterization of the kindlin-1 pleckstrin homology domain. J. Biol. Chem., 287(52):43246-43261.

[18]Youssefian, L., Vahidnezhad, H., Barzegar, M., et al., 2015. The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families. J. Invest. Dermatol., 135(5):1447-1450.

[19]Zhou, C., Song, S., Zhang, J., 2009. A novel 3017-bp deletion mutation in the FERMT1 (KIND1) gene in a Chinese family with Kindler syndrome. Br. J. Dermatol., 160(5):1119-1122.

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