Root dentin anomaly and a PLG mutation.

• 影响指数: 2.465
• 发表时间: Nov-Dec 2014
• 来源期刊: Eur J Med Genet
• DOI: 10.1016/j.ejmg.2014.09.006
• PMID: 25281489
• 文章类型: Case Reports
• 中科院分区: Q3
• 方向: 生物
• 作者列表: Tananuvat N,Charoenkwan P,Ohazama A,Ketuda Cairns JR,Kaewgahya M,Kantaputra PN

关键词: Dental morphology; Dentin formation; Dentinogenesis; Plasminogen; Root development; Tooth development

Mesh: Animals; Child; Conjunctivitis / diagnosis genetics surgery; DNA Mutational Analysis; Dentin / abnormalities diagnostic imaging; Female; Genetic Association Studies; Homozygote; Humans; Mice; Mutation, Missense; Plasminogen / deficiency genetics; Radiography; Skin Diseases, Genetic / diagnosis genetics surgery; Tooth Abnormalities / diagnostic imaging genetics; Tooth Root / abnormalities diagnostic imaging

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.