A novel P3H1 mutation is associated with osteogenesis imperfecta type VIII and dental anomalies.

Autor: Kantaputra PN; Center of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand; Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University. Electronic address: dentaland17@gmail.com., Dejkhamron P; Department of Pediatrics, Faculty of Medicine, Chiang Mai University., Intachai W; Center of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand., Ngamphiw C; National Biobank of Thailand, National Science and Technology Development Agency, Khlong Luang, Pathum Thani, Thailand., Ketudat Cairns JR; Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand; School of Chemistry, Institute of Science, and Center for Biomolecular Structure, Function and Application, Suranaree University of Technology, Nakhon Ratchasima, Thailand., Kawasaki K; Division of Oral Anatomy, Faculty of Dentistry & Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan., Ohazama A; Division of Oral Anatomy, Faculty of Dentistry & Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan., Olsen B; Department of Developmental Biology, Harvard School of Dental Medicine, Boston, MA, USA., Tongsima S; National Biobank of Thailand, National Science and Technology Development Agency, Khlong Luang, Pathum Thani, Thailand., Angkurawaranon S; Division of Diagnostic Radiology, Department of Radiology, Faculty of Medicine, Chiang Mai University.
Jazyk: angličtina
Zdroj: Oral surgery, oral medicine, oral pathology and oral radiology [Oral Surg Oral Med Oral Pathol Oral Radiol] 2021 Dec; Vol. 132 (6), pp. e198-e207. Date of Electronic Publication: 2021 Jan 28.
DOI: 10.1016/j.oooo.2021.01.023
Abstrakt: Objective: Our objective was to investigate the molecular etiology of osteogenesis imperfecta type VIII and dental anomalies in 4 siblings of a Karen tribe family.
Materials and Methods: Four patients and their unaffected parents were studied by clinical and radiographic examination. In situ hybridization of P3h1 during early murine tooth development, whole-exome sequencing, and Sanger direct sequencing were performed.
Results: A novel homozygous missense P3H1 mutation (NM_001243246.1; c.2141A>G; NP_001230175.1; p.Lys714Arg) was identified in all patients. Their unaffected parents were heterozygous for the mutation. The mutation is hypothesized to belong to isoform c of P3H1. Mutations in P3H1 are associated with autosomal recessive osteogenesis imperfecta type VIII. Hypodontia, a mesiodens, and single-rooted permanent second molars found in our patients have never been reported in patients with P3H1 mutations. Single-rooted second permanent molars or failure to form multiple roots implies effects of the P3H1 mutation on root development.
Conclusions: We report a novel P3H1 mutation as the underlying cause of osteogenesis imperfecta type VIII with dental anomalies. Our study suggests that isoform c of P3H1 is also a functional isoform of P3H1. We report, for the first time, to our knowledge, the association of P3H1 mutation and osteogenesis imperfecta type VIII with dental anomalies.
(Copyright © 2021 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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