A novel large deletion combined with a nonsense mutation in a Chinese child with Papillon-Lefevre syndrome

作者：Wu, W.; Chen, B.; Chen, X.; Chen, L.; Yi, L.; Wang, Y.; Yan, F.; Sun, W.^*

来源：Journal of Periodontal Research, 2016, 51(3): 376-380.

DOI：10.1111/jre.12317

• DNA
• RNA
• genetics
• periodontal diagnostics
• periodontal disease

Background and objectivePapillon-Lefevre 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.
Material and methodsWe 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.
ResultsThe result demonstrated that the patient have a 110 kb deletion (Chr11: 88032292: 88142997(NC_000011)) combined with a nonsense mutation (Gln182Ter) in this gene.
ConclusionOur 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.

• 出版日期2016-6
• 单位南京大学