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A novel large deletion combined with a nonsense mutation in a C hinese child with P apillon– L efèvre syndrome
Author(s) -
Wu W.,
Chen B.,
Chen X.,
Chen L.,
Yi L.,
Wang Y.,
Yan F.,
Sun W.
Publication year - 2016
Publication title -
journal of periodontal research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.31
H-Index - 83
eISSN - 1600-0765
pISSN - 0022-3484
DOI - 10.1111/jre.12317
Subject(s) - nonsense mutation , mutation , genetics , gene , nonsense , palmoplantar keratoderma , point mutation , biology , microbiology and biotechnology , missense mutation
Background and objective Papillon‐Lefèvre Syndrome ( PLS ) is a rare autosomal recessive hereditary disease ( MIM 245000). 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. Material and 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. Conclusion 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.