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case_images: X-ray of teeth: (a) oral and dental films of the proband at 3 years and 2 months, (b) oral and dental films of the proband at 5 years and 1 month, (c) oral and dental films of the proband at 5 years and 6 month, (d) oral and dental films of the proband's mother, and (e) oral and dental films of the proband's Father.
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case_images: Furthermore, the karyotype analysis revealed no abnormalities (Figure 1). Additionally, an X-ray of the patient's upper and lower limbs showed no signs of incomplete bone calcification (Supplemental Figure 1). No obvious abnormalities in the dental film of the oral cavity were observed, and the arrows in the second and third images of the dental film pointed to newly erupted permanent teeth (Figure 1).
case_images: Pathological figures and clinical appearance of the deciduous teeth: (a) deciduous teeth adjunct surface, (b) deciduous teeth buccal lingual surface, (c) deciduous teeth maxillofacial, (d) Uneven enamel thickness, dysplasia, irregular dentin calcification (Mag 10x10), (e) cementum dysplasia, large pulp cavity (Mag 4x10), (f) Uneven enamel thickness, dysplasia (Mag 20x10), (g) local enamel dysplasia of teeth, visible ribbon depression (Mag 20x10).
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case_images: In addition, the pathology of his deciduous teeth was normal (Figure 2). Testing Company was commissioned to conduct chromosome karyotype analysis, whole exon detection, and locus verification, which were completed using the Illumina sequencing platform (Supplemental Figure 2).
case_images: Genetic testing: (a) genetic testing of the proband, (b) genetic testing of proband's father and mother, (c) genetic testing of the proband and his father and mother, (d) genetic testing of the proband's mother, and (e) genetic testing of the proband's sister.
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case_images: Proband's Sanger gene sequencing verification results and peak demonstrated complex heterozygous mutation of the ALPL gene (Figure 3).
case_images: Predicting the structure: (a and b) predicting the structure of proband's mother's protein. 215 ILe (green) mutates to Thr, a new hydrogen bond (shown in the red box) formed with the 212 Ile (yellow), which may change the intermolecular force, thus affecting the stable structure and physicochemical properties of the protein. (c and d) predicting the structure of proband's mother's protein. 181 Ser (green) mutates to Leu, the 2 hydrogen bonds formed with Asp at 183 (yellow) lost, resulting in weakened intermolecular forces, which may lead to structural instability of the protein and affect its biological function.
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case_images: NM_000478.6:c.644 T> C (p.Ile215Thr), which has not been reported yet. No mutation was detected in his sister (Figure 4).