Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis. - CNRS - Centre national de la recherche scientifique Accéder directement au contenu
Article Dans Une Revue Journal of Human Genetics Année : 2019

Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.

Résumé

Cathepsin C (CatC) is a cysteine protease involved in a variety of immune and inflammatory pathways such as activation of cytotoxicity of various immune cells. Homozygous or compound heterozygous variants in the CatC coding gene CTSC cause different conditions that have in common severe periodontitis. Periodontitis may occur as part of Papillon-Lefèvre syndrome (PLS; OMIM#245000) or Haim-Munk syndrome (HMS; OMIM#245010), or may present as an isolated finding named aggressive periodontitis (AP1; OMIM#170650). AP1 generally affects young children and results in destruction of the periodontal support of the primary dentition. In the present study we report exome sequencing of a three generation consanguineous Turkish family with a recessive form of early-onset AP1. We identified a novel homozygous missense variant in exon 2 of CTSC (NM_148170, c.G302C, p.Trp101Ser) predicted to disrupt protein structure and to be disease causing. This is the first described CTSC variant specific to the nonsyndromic AP1 form. Given the broad phenotypic spectrum associated with CTSC variants, reporting this novel variant gives new insights on genotype/phenotype correlations and might improve diagnosis of patients with early-onset AP1.

Domaines

Génétique
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Dates et versions

hal-02147731 , version 1 (04-06-2019)

Identifiants

Citer

Anne Molitor, Tony Prud'Homme, Zhichao Miao, Solène Conrad, Agnès Bloch-Zupan, et al.. Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.. Journal of Human Genetics, 2019, ⟨10.1038/s10038-019-0615-3⟩. ⟨hal-02147731⟩
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