EDA Variants Are Responsible for Approximately 90% of Deciduous Tooth Agenesis

• Published in: International journal of molecular sciences Vol. 25; no. 19; p. 10451
• Main Authors: Su, Lanxin, Lin, Bichen, Yu, Miao, Liu, Yang, Sun, Shichen, Feng, Hailan, Liu, Haochen, Han, Dong
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01-10-2024; MDPI
• Subjects: Agenesis; anodontia; Anodontia - genetics; Bone Morphogenetic Protein 4 - genetics; Child; Child, Preschool; Collagen; Congenital diseases; deciduous tooth agenesis; Development and progression; Ectodysplasins - genetics; EDA; Edar-Associated Death Domain Protein - genetics; Exome Sequencing; Female; Genes; Genetic aspects; Genetic Association Studies; genotype–phenotype analysis; Homeobox Protein PITX2; Homeodomain Proteins - genetics; Humans; hypodontia; Low Density Lipoprotein Receptor-Related Protein-6 - genetics; Low Density Lipoprotein Receptor-Related Protein-6 - metabolism; Male; MSX1 Transcription Factor - genetics; Mutation; oligodontia; Patients; PAX9 Transcription Factor - genetics; Phenotype; Teeth; Tooth, Deciduous; Transcription Factors - genetics; Tumor necrosis factor-TNF; Wnt Proteins; China; EDA; hypodontia; genotype–phenotype analysis; anodontia; oligodontia; deciduous tooth agenesis
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms251910451

Deciduous tooth agenesis is a severe craniofacial developmental defect because it affects masticatory function from infancy and may result in delayed growth and development. Here, we aimed to identify the crucial pathogenic genes and clinical features of patients with deciduous tooth agenesis. We recruited 84 patients with severe deciduous tooth agenesis. Whole-exome and Sanger sequencing were used to identify the causative variants. Phenotype-genotype correlation analysis was conducted. We identified 54 different variants in 8 genes in 84 patients, including
(73, 86.9%),
(2, 2.4%),
(2, 2.4%),
(2, 2.4%),
(1, 1.2%),
(1, 1.2%),
(1, 1.2%), and
(1, 1.2%). Variants in
(
) accounted for 86.9% of patients with deciduous tooth agenesis. Patients with the
variants had an average of 15.4 missing deciduous teeth. Mandibular deciduous central incisors had the highest missing rate (100%), followed by maxillary deciduous lateral incisors (98.8%) and mandibular deciduous lateral incisors (97.7%). Our results indicated that
gene variants are major pathogenic factors for deciduous tooth agenesis, and
is specifically required for deciduous tooth development. The results provide guidance for clinical diagnosis and genetic counseling of deciduous tooth agenesis.