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GLT6D1 (HGNC:23671) has been implicated in early‑onset periodontitis (MONDO_0005076) based on exome sequencing of 5 families with severe disease (PMID:34515563). In this study, several periodontitis risk genes were evaluated and GLT6D1 emerged as a candidate due to the identification of predicted deleterious mutations. However, unlike other genes in the cohort where clear compound heterozygous or homozygous variants were observed (e.g., CTSC and TUT7), the evidence for GLT6D1 relies solely on in silico predictions without detailed variant segregation or recurring founder mutations.
The presumed inheritance mode for periodontitis associated with GLT6D1 is autosomal recessive, aligning with other early‑onset periodontitis genes, although specific segregation data for GLT6D1 were not provided. Furthermore, functional assessments supporting a direct role of GLT6D1 in periodontitis are minimal, and the underlying mechanism of pathogenicity remains to be defined. Key take‑home: While preliminary genetic data suggest GLT6D1 may contribute to severe early‑onset periodontitis, additional segregation analyses and functional validation are required to establish its clinical utility in diagnostic decision‑making.
Gene–Disease AssociationLimitedPredicted deleterious variants in GLT6D1 were identified in a single exome sequencing study of 5 families with early‑onset periodontitis (PMID:34515563), but segregation and replication data are lacking. Genetic EvidenceLimitedCurrent genetic evidence is based on a single study without extending segregation analyses or replication across independent cohorts, limiting robustness of the association for GLT6D1. Functional EvidenceLimitedFunctional assays directly assessing the impact of GLT6D1 mutations in periodontitis are minimal, and the mechanism of pathogenicity remains to be elucidated. |