PMC7424401_01
Clinical and radiological views of the proband. (a) Intraoral photograph of the patient showing hypocalcified enamel and eruption anomalies. The enamel is dark yellow, streaked, and severely worn out. The proband's teeth are in the transitional dentition phase, with major diastemas. (b) Panoramic radiograph of the proband showing retained, impacted, and missing teeth; generally thin or absent enamel; taurodontism on first permanent molars; one temporary molar restored with a preformed metallic crown; and the central right incisor endodontically treated. (c) Intraoral photograph immediately after prosthetic rehabilitation of the patient with a complete removable denture. An anterior disastema is preserved for esthetics.
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The enamel was dark yellow, streaked, and severely worn (Figure 1(a)). The enamel radio-opacity was similar to that of dentin (Figure 1(b)). On orthopantomography (Figure 1(b)), taurodontism was observed on the first permanent molars. After several dental infections, dental extractions and complete denture removal were performed (Figure 1(c)).
(a) Clinical view of the proband's mother during the first examination. On the upper jaw, all teeth are covered by prosthetic elements. On the lower jaw, the remaining teeth present severe wear with >50% loss of tooth structure. The enamel is orange-brown. (b) Panoramic radiograph of the proband's mother showing mandibular high bone density, missing teeth, absent enamel, and many restored and endodontically treated teeth.
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Clinically, the enamel was orange-brown and appeared severely worn out (Figure 2(a)). Panoramic radiography confirmed multifocal areas of high density in the mandibular bone (Figure 2(b)). Dental examination revealed teeth with thin or absent enamel, numerous endodontic treatments and restorations, and missing teeth (Figure 2(b)).
(a) Family pedigree. (b) DLX3 NM_005220 alignment on the Integrative Genomics Viewer (IGV, Broad Institute), reference genome hg19, after next-generation sequencing on a targeted panel for amelogenesis imperfecta. Upper tracks, patient I.1; middle tracks, patient II.1; and bottom tracks, patient I.2. Visualization of misalignments in orange versus pink are due to the heterozygous frameshift G > C at position 398 (direct lecture C > G on reverse strand).
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These oral conditions were not reported for the patient's brothers, aged 2 and 5 years (considering the limitation of the clinical examination regarding their ages), or father (Figure 3(a)). Hospital (APHP, Paris) (Figure 3(a)). High-throughput targeted sequencing was performed on an ion PGMTM system from amplicon libraries (Thermo Fisher Scientific) (Table 1). Arg133Pro, was identified in both patients I.1 and II.1, but not in I.2 (DNAs for II.2 and II.3 were not available) (Figure 3(b)), neither in a positive control cohort of patients with AI nor in the database of the Department of Molecular Biology and Genetics.