title: A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome.
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.
authors.affiliation: Capital Institute of Pediatrics, Beijing 100020, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Gao
authors.affiliation: Capital Institute of Pediatrics, Beijing 100020, China.
authors.forename: Jin-li
authors.initials: JL
authors.lastname: Bai
authors.affiliation: Capital Institute of Pediatrics, Beijing 100020, China.
authors.forename: Xiao-yan
authors.initials: XY
authors.lastname: Liu
authors.affiliation: Capital Institute of Pediatrics, Beijing 100020, China.
authors.forename: Yu-jin
authors.initials: YJ
authors.lastname: Qu
authors.affiliation: Capital Institute of Pediatrics, Beijing 100020, China.
authors.forename: Yan-yan
authors.initials: YY
authors.lastname: Cao
authors.affiliation: Capital Institute of Pediatrics, Beijing 100020, China.
authors.forename: Jian-cai
authors.initials: JC
authors.lastname: Wang
authors.affiliation: Capital Institute of Pediatrics, Beijing 100020, China.
authors.forename: Yu-wei
authors.initials: YW
authors.lastname: Jin
authors.affiliation: Capital Institute of Pediatrics, Beijing 100020, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Wang
authors.affiliation: Capital Institute of Pediatrics, Beijing 100020, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Song
mesh_terms: D001768:Blister / Q000235:genetics*; D002648:Child; D004820:Epidermolysis Bullosa / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D010510:Periodontal Diseases / Q000235:genetics*; D010787:Photosensitivity Disorders / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion
chemical_list: C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins
keywords: FERMT1 gene; Kindler syndrome; Mutation