title: A novel large deletion combined with a nonsense mutation in a Chinese child with Papillon-Lefèvre syndrome.
abstract: OBJECTIVE
  Papillon-Lefèvre Syndrome (PLS) is a rare autosomal recessive hereditary disease (MIM245000). The syndrome is characterized by palmoplantar keratoderma and early onset periodontitis, caused by CTSC gene mutation. The mutation in CTSC previously reported is mainly point mutations. Large deletion in the CTSC gene has not yet been reported.
  
  
  METHODS
  We collected 5 mL peripheral blood from a patient with PLS and her family members and used the direct sequencing method to perform CTSC bidirectional sequencing. We also used FISH to analyze the approximate locations of the ends of the missing fragment and then determined the fragment sequence through direct sequencing.
  
  
  RESULTS
  The result demonstrated that the patient have a 110 kb deletion (Chr11: 88032292: 88142997(NC_000011)) combined with a nonsense mutation (Gln182Ter) in this gene.
  
  
  CONCLUSIONS
  Our study reveals a compound mutation consisting of a large deletion and a nonsense mutation, which provides a new insight in the mutation type of CTSC gene.
authors.affiliation: Department of Periodontology, Institute and Hospital of Stomatology, Nanjing University Medical School, Nanjing, China.
authors.forename: W
authors.initials: W
authors.lastname: Wu
authors.affiliation: Department of Periodontology, Institute and Hospital of Stomatology, Nanjing University Medical School, Nanjing, China.
authors.forename: B
authors.initials: B
authors.lastname: Chen
authors.affiliation: Department of Periodontology, Institute and Hospital of Stomatology, Nanjing University Medical School, Nanjing, China.
authors.forename: X
authors.initials: X
authors.lastname: Chen
authors.affiliation: Department of Periodontology, Institute and Hospital of Stomatology, Nanjing University Medical School, Nanjing, China.
authors.forename: L
authors.initials: L
authors.lastname: Chen
authors.affiliation: Translational Medicine Center, Nanjing University Medical School, Nanjing, China.
authors.forename: L
authors.initials: L
authors.lastname: Yi
authors.affiliation: Medical Genetics Center, Nanjing University Medical School, Nanjing, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Periodontology, Institute and Hospital of Stomatology, Nanjing University Medical School, Nanjing, China.
authors.forename: F
authors.initials: F
authors.lastname: Yan
authors.affiliation: Department of Periodontology, Institute and Hospital of Stomatology, Nanjing University Medical School, Nanjing, China.
authors.forename: W
authors.initials: W
authors.lastname: Sun
mesh_terms: D010520:Aggressive Periodontitis / Q000175:diagnosis / Q000235:genetics; D044466:Asian People; D020789:Cathepsin C / Q000235:genetics*; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D010214:Papillon-Lefevre Disease / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D017354:Point Mutation; D011862:Radiography, Panoramic; D017384:Sequence Deletion; D016388:Tooth Loss / Q000000981:diagnostic imaging
chemical_list: D018389:Codon, Nonsense; C533918:CTSC protein, human; D020789:Cathepsin C
keywords: DNA/RNA; genetics; periodontal diagnostics; periodontal disease