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| A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome |
| Ying Gao, Jin-li Bai, Xiao-yan Liu, Yu-jin Qu, Yan-yan Cao, Jian-cai Wang, Yu-wei Jin, Hong Wang, Fang Song |
| Capital Institute of Pediatrics, Beijing 100020, China |
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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.
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Received: 08 April 2015
Published: 04 November 2015
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Cite this article:
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. Journal of Zhejiang University-SCIENCE B (Biomedicine & Biotechnology), 2015, 16(11): 957-962.
URL:
http://www.zjujournals.com/xueshu/zjus-b/10.1631/jzus.B1500080 OR http://www.zjujournals.com/xueshu/zjus-b/Y2015/V16/I11/957
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