title: Root dentin anomaly and a PLG mutation.
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.
authors.affiliation: Department of Ophthalmology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
authors.forename: Napaporn
authors.initials: N
authors.lastname: Tananuvat
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
authors.forename: Pimlak
authors.initials: P
authors.lastname: Charoenkwan
authors.affiliation: Division of Oral Anatomy, Department of Oral Biological Science, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Ohazama
authors.affiliation: School of Biochemistry, Institute of Science, and Center for Biomolecular Structure, Function and Application, Suranaree University of Technology, Nakhon Ratchasima, Thailand; Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.
authors.forename: James R
authors.initials: JR
authors.lastname: Ketuda Cairns
authors.affiliation: Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand; Craniofacial Genetics Laboratory, Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.
authors.forename: Massupa
authors.initials: M
authors.lastname: Kaewgahya
authors.affiliation: Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand; Craniofacial Genetics Laboratory, Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand; Dentaland Clinic, Chiang Mai, Thailand. Electronic address: dentaland17@gmail.com.
authors.forename: Piranit Nik
authors.initials: PN
authors.lastname: Kantaputra
mesh_terms: D000818:Animals; D002648:Child; D003231:Conjunctivitis / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D004252:DNA Mutational Analysis; D003804:Dentin / Q000002:abnormalities / Q000000981:diagnostic imaging*; D005260:Female; D056726:Genetic Association Studies; D006720:Homozygote; D006801:Humans; D051379:Mice; D020125:Mutation, Missense; D010958:Plasminogen / Q000172:deficiency* / Q000235:genetics*; D011859:Radiography; D012873:Skin Diseases, Genetic / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D014071:Tooth Abnormalities / Q000000981:diagnostic imaging* / Q000235:genetics; D014092:Tooth Root / Q000002:abnormalities / Q000000981:diagnostic imaging
chemical_list: D010958:Plasminogen
keywords: Dental morphology; Dentin formation; Dentinogenesis; Plasminogen; Root development; Tooth development