Novel Compound Heterozygous Mutations in CTSC Gene in a Chinese Family with Papillon-Lefevre Syndrome

Papillon-Lefevre syndrome (PLS) (OMIM: 245000) is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early onset periodontitis, resulting in the premature loss of the deciduous and permanent teeth. PLS is caused by mutations in the cathepsin C (CTSC) gene (OMIM: 602...

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Published inAnnals of dermatology Vol. 33; no. 4; pp. 369 - 372
Main Authors Yuan Wang, Hanmei Zhang, Suying Feng
Format Journal Article
LanguageKorean
Published 대한피부과학회 05.08.2021
Subjects
Cathepsin C
Palmoplantar keratoderma
Papillon-Lefevre syndrome
Periodontitis
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Summary:Papillon-Lefevre syndrome (PLS) (OMIM: 245000) is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early onset periodontitis, resulting in the premature loss of the deciduous and permanent teeth. PLS is caused by mutations in the cathepsin C (CTSC) gene (OMIM: 602365), which has been mapped to chromosome 11q14- q21. Genetic analysis can help early and rapid diagnosis of PLS. Here we report on a Chinese PLS pedigree with two affected siblings. We have identified two novel compound heterozygous mutations c.763T＞C (p.C255R) and c.1015C＞ A (p.R339S) in the CTSC gene. The two mutations expand the spectrum of CTSC mutations in PLS. (Ann Dermatol 33(4) 369∼ 372, 2021)
Bibliography:The Korean Dermatological Association
ISSN:1013-9087
2005-3894