Root dentin anomaly and a PLG mutation |
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| Affiliation: | 1. Unidad de Investigación en Enfermedades Infecciosas y Parasitarias, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, Mexico City, Mexico;2. Unidad de Investigación Médica en Inmunología e Infectología, Hospital de Infectología, Centro Médico Nacional La Raza, IMSS, Mexico City, Mexico;3. Facultad de Medicina, Universidad Nacional Autónoma de México, Mexico City, Mexico;4. Coordinación de Vigilancia Epidemiológica, IMSS, Mexico City, Mexico |
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| Abstract: | We report a Thai girl affected with plasminogen deficiency, Type I. Ligneous conjunctivitis was first observed when she was one-month-old. The newly recognized findings include tapered incisor roots as a result of thin root dentin, generalized short tooth roots, and mandibular prognathism. Mutation analysis of PLG demonstrated homozygous c.1193G>A missense mutation. The parents were heterozygous for c.1193G>A mutation. The c.1193G>A mutation is novel and predicted to cause amino acid substitution p.Cys398Tyr. Thin root dentin in the patient who was affected with PLG mutation and immunolocalization of Plg during early root development in mice imply the role of plasminogen in root dentin formation. |
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| Keywords: | Plasminogen Tooth development Root development Dentin formation Dentinogenesis Dental morphology |
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