![]() ![]() The classic Witkop AI classification taking into consideration clinical phenotype and inheritance pattern distinguishes four major AI types with 14 subtypes: hypoplastic, hypocalcification, hypomaturation, and hypomaturation–hypoplastic with taurodontism. These cases expand the mutational spectrum of WDR72 mutations causing hypomaturation AI and improve the possibility of genetic testing to accurately diagnose AI caused by WDR72 defects. ![]() Current ideas on WDR72 structure and function are discussed. A homozygous recurrent mutation variant (c.1467_1468delAT, p.(Val491Aspfs*8)) was also identified. Novel mutations include a homozygous deletion and insertion mutation (NM_182758.4: c.2680_2699delinsACTATAGTT, p.(Ser894Thrfs*15)), compound heterozygous mutations (paternal c.2332dupA, p.(Met778Asnfs*4)) and (maternal c.1287_1289del, p.(Ile430del)) and a homozygous 3694 bp deletion that includes exon 14 (NG_017034.2:g.96472_100165del). Mutational analyses identified biallelic WDR72 mutations in four hypomaturation AI families. ![]() In this study, mutational analysis was performed with whole exome sequencing (WES) to identify genetic etiology underlying the hypomaturation AI condition in affected families. 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. The affected enamel can be classified as hypoplastic, hypomaturation, or hypocalcified in form. Amelogenesis imperfecta (AI) is a heterogeneous collection of hereditary enamel defects. ![]()
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