Identification of Candidate Genes of Familial Multiple Idiopathic Cervical Root Resorption

• Published in: Journal of endodontics Vol. 49; no. 11; pp. 1537 - 1547
• Main Authors: Muromachi, Koichiro, Hosomichi, Kazuyoshi, Park, Heetae, Yamaguchi, Tetsutaro, Tani-Ishii, Nobuyuki
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.11.2023
• Subjects: Adult; Exome Sequencing; Female; Humans; Invasive cervical root resorption; Male; multiple idiopathic cervical root resorption; Pedigree; Root Resorption - genetics; Sanger sequencing; Tooth Cervix - pathology; whole-exome sequencing; Invasive cervical root resorption; multiple idiopathic cervical root resorption; Sanger sequencing; whole-exome sequencing
• ISSN: 0099-2399; 1878-3554; 1878-3554
• DOI: 10.1016/j.joen.2023.09.008

Multiple idiopathic cervical root resorption (MICRR) is a disease with an unknown etiology that causes invasive cervical root resorption in multiple teeth. Although previous MICRR genomic studies have identified candidate gene variants, the etiology of the condition remains poorly understood. In the present study, we investigated the genetic causality of MICRR to explore candidate variants. Saliva samples from a family containing 2 affected and two unaffected subjects with the dominant transmission of MICRR were subjected to whole-exome sequencing. As a result, we identified novel candidate variants of 10 genes. Each variant was confirmed by Sanger sequencing. Among them, the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines classified doublecortin domain containing 1 (c.1099 C > T) and β-defensin 114 (c.189 T > G) as “pathogenic,” and solute carrier family 45 member 2 (c.152_153del) as “likely pathogenic.” These results provide new insight to help clarify the pathogenesis of MICRR, and the variants could be applied for further investigation to understand invasive cervical root resorption.