A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature
This study has identified individuals carrying biallelic and heterozygous <i>TSPEAR</i> variants, where heterozygous carriers often exhibit non-syndromic tooth agenesis. Moreover, the presence of inter- and intrafamilial variability emerges as a notable feature of the disease. This understanding underscores the complexity of the disease and the importance of considering genetic variability when diagnosing and managing affected individuals.
Authors
- Beren Karaosmanoğlu (ORCID: https://orcid.org/0000-0001-5564-4813)
- Pelin Özlem Şimşek‐Kiper (ORCID: https://orcid.org/0000-0001-7244-7766)
- Gülen Eda Ütine (ORCID: https://orcid.org/0000-0001-6577-5542)
- Akçahan Akalın (ORCID: https://orcid.org/0000-0001-9770-284X)
- Cansu Özşin‐Özler (ORCID: https://orcid.org/0000-0002-9366-3991)
- Ekim Z. Taşkıran (ORCID: https://orcid.org/0000-0001-6040-6625)
- Gizem Ürel Demir (ORCID: https://orcid.org/0000-0002-9928-3236)
- Meryem Uzamış Tekçiçek (ORCID: https://orcid.org/0000-0003-1179-7708)
- Nagihan Koç
Institutions
- Diyarbakır Askeri Hastanesi (TR)
- Hacettepe University (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-02-24
- DOI
- https://doi.org/10.1159/000544806
- Primary Topic
- Cleft Lip and Palate Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00