biostudies-literatureKim YJNIDCR/NIHNational Research Foundation of Korea (NRF)NIDCR NIH HHS326https://www.ebi.ac.uk/biostudies/studies/S-EPMC9965932biostudies-literatureUnknown13(2)Amelogenesis imperfecta (AI) is a heterogeneous collection of hereditary enamel defects. The affected enamel can be classified as hypoplastic, hypomaturation, or hypocalcified in form. A better understanding of normal amelogenesis and improvements in our ability to diagnose AI through genetic testing can be realized through more complete knowledge of the genes and disease-causing variants that cause AI. In this study, mutational analysis was performed with whole exome sequencing (WES) to identify genetic etiology underlying the hypomaturation AI condition in affected families. Mutational analyses identified biallelic <i>WDR72</i> mutations in four hypomaturation AI families. Novel mutations include a homozygous deletion and insertion mutation (NM_182758.4: c.2680_2699delinsACTATAGTT, p.(SeJournal of personalized medicineNovel <i>WDR72</i> Mutations Causing Hypomaturation Amelogenesis Imperfecta.PMC9965932R01 DE015846R01DE027675R01 DE027675NRF-2018R1A5A2024418R01DE015846NRF-2020R1A2C2100543Hu JCSeymen FSimmer JPKim YJZhang HKasimoglu YLee YKoruyucu MKim JWfalseNovel <i>WDR72</i> Mutations Causing Hypomaturation Amelogenesis Imperfecta.Amelogenesis imperfecta (AI) is a heterogeneous collection of hereditary enamel defects. The affected enamel can be classified as hypoplastic, hypomaturation, or hypocalcified in form. A better understanding of normal amelogenesis and improvements in our ability to diagnose AI through genetic testing can be realized through more complete knowledge of the genes and disease-causing variants that cause AI. In this study, mutational analysis was performed with whole exome sequencing (WES) to identify genetic etiology underlying the hypomaturation AI condition in affected families. Mutational analyses identified biallelic <i>WDR72</i> mutations in four hypomaturation AI families. Novel mutations include a homozygous deletion and insertion mutation (NM_182758.4: c.2680_2699delinsACTATAGTT, p.(Se2023-01-01T00:00:00Z2023 Feb2026-05-16T03:12:19.525Z2025-02-18T23:44:19.538ZS-EPMC99659323683656010.3390/jpm13020326