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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Autores principales: Wang, Yuan, Zhang, Hanmei, Feng, Suying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Dermatological Association; The Korean Society for Investigative Dermatology 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8273319/
https://www.ncbi.nlm.nih.gov/pubmed/34341640
http://dx.doi.org/10.5021/ad.2021.33.4.369
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author Wang, Yuan
Zhang, Hanmei
Feng, Suying
author_facet Wang, Yuan
Zhang, Hanmei
Feng, Suying
author_sort Wang, Yuan
collection PubMed
description 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.
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spelling pubmed-82733192021-08-01 Novel Compound Heterozygous Mutations in CTSC Gene in a Chinese Family with Papillon-Lefevre Syndrome Wang, Yuan Zhang, Hanmei Feng, Suying Ann Dermatol Case Report 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. The Korean Dermatological Association; The Korean Society for Investigative Dermatology 2021-08 2021-07-01 /pmc/articles/PMC8273319/ /pubmed/34341640 http://dx.doi.org/10.5021/ad.2021.33.4.369 Text en Copyright © 2021 The Korean Dermatological Association and The Korean Society for Investigative Dermatology https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0 (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Wang, Yuan
Zhang, Hanmei
Feng, Suying
Novel Compound Heterozygous Mutations in CTSC Gene in a Chinese Family with Papillon-Lefevre Syndrome
title Novel Compound Heterozygous Mutations in CTSC Gene in a Chinese Family with Papillon-Lefevre Syndrome
title_full Novel Compound Heterozygous Mutations in CTSC Gene in a Chinese Family with Papillon-Lefevre Syndrome
title_fullStr Novel Compound Heterozygous Mutations in CTSC Gene in a Chinese Family with Papillon-Lefevre Syndrome
title_full_unstemmed Novel Compound Heterozygous Mutations in CTSC Gene in a Chinese Family with Papillon-Lefevre Syndrome
title_short Novel Compound Heterozygous Mutations in CTSC Gene in a Chinese Family with Papillon-Lefevre Syndrome
title_sort novel compound heterozygous mutations in ctsc gene in a chinese family with papillon-lefevre syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8273319/
https://www.ncbi.nlm.nih.gov/pubmed/34341640
http://dx.doi.org/10.5021/ad.2021.33.4.369
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