title: A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel.
abstract: OBJECTIVE
  To characterize clinical features and identify genetic causes of a patient with oculodentodigital dysplasia (ODDD).
  
  
  METHODS
  Clinical, dental, radiological features were obtained. DNA was collected from an affected Thai family. Whole-exome sequencing was employed to identify the disease-causing mutation causing ODDD. The presence of the identified variant was confirmed by Sanger sequencing.
  
  
  RESULTS
  The proband suffered with extensive enamel hypoplasia, polysyndactyly and clinodactyly of the 3rd-5th fingers, microphthalmia, and unique facial characteristics of ODDD. Mutation analysis revealed a novel missense mutation, c. 31C>A, p.L11I, in the GJA1 gene which encodes gap junction channel protein connexin 43. Bioinformatics and structural modeling suggested the mutation to be pathogenic. The parents did not harbor the mutation.
  
  
  CONCLUSIONS
  This study identified a novel de novo mutation in the GJA1 gene associated with severe tooth defects. These results expand the mutation spectrum and understanding of pathologic dental phenotypes related to ODDD.
authors.affiliation: Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.|STAR on Craniofacial and Skeletal Disorders, Chulalongkorn University, Bangkok, Thailand.
authors.forename: T
authors.initials: T
authors.lastname: Porntaveetus
authors.affiliation: Department of Pediatrics, Center of Excellence for Medical Genetics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.|Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
authors.forename: C
authors.initials: C
authors.lastname: Srichomthong
authors.affiliation: Division of Oral Anatomy, Niigata University, Niigata, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Ohazama
authors.affiliation: Department of Pediatrics, Center of Excellence for Medical Genetics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.|Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
authors.forename: K
authors.identifier: http://orcid.org/0000-0001-5679-7547
authors.initials: K
authors.lastname: Suphapeetiporn
authors.affiliation: Department of Pediatrics, Center of Excellence for Medical Genetics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.|Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
authors.forename: V
authors.initials: V
authors.lastname: Shotelersuk
mesh_terms: D002675:Child, Preschool; D018031:Connexin 43 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D003744:Dental Enamel Hypoplasia / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D013576:Syndactyly / Q000235:genetics*; D014071:Tooth Abnormalities / Q000235:genetics*; D000073359:Exome Sequencing
chemical_list: D018031:Connexin 43; C500216:GJA1 protein, human
keywords: GJA1; enamel hypoplasia; mutation; novel; oculodentodigital