Journal of Applied Genetics

, Volume 50, Issue 3, pp 297–299

A novelGJA1 missense mutation in a Polish child with oculodentodigital dysplasia

  • A. Jamsheer
  • M. Wiśniewska
  • A. Szpak
  • G. Bugaj
  • M. R. Krawczyński
  • B. Budny
  • A. Wawrocka
  • A. Latos-Bieleńska
Case Report

DOI: 10.1007/BF03195687

Cite this article as:
Jamsheer, A., Wiśniewska, M., Szpak, A. et al. J Appl Genet (2009) 50: 297. doi:10.1007/BF03195687

Abstract

Oculodentodigital dysplasia (ODDD) (OMIM #164200) is a rare congenital, autosomal dominant disorder comprising craniofacial, ocular, dental, and digital anomalies. The syndrome is caused byGJA1 mutations. The clinical phenotype of ODDD involves a characteristic dysmorphic facies, ocular findings (microphthalmia, microcornea, glaucoma), syndactyly type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and hypotrichosis. In a Polish child with the clinical symptoms typical of ODDD, we demonstrated a novel missense mutation c.C31T resulting in p.L11F substitution. Our report provides evidence on the importance of this highly conserved amino acid residue for the proper functioning of GJA1 protein.

Keywords

connexin 43GJA1missense mutationoculodentodigital syndromeODDSoculodentoosseous dysplasiaODDDregistries of congenital malformations

Copyright information

© Institute of Plant Genetics, Polish Academy of Sciences, Poznan 2009

Authors and Affiliations

  • A. Jamsheer
    • 1
    • 2
  • M. Wiśniewska
    • 1
    • 2
  • A. Szpak
    • 1
  • G. Bugaj
    • 3
  • M. R. Krawczyński
    • 1
    • 2
  • B. Budny
    • 2
  • A. Wawrocka
    • 1
  • A. Latos-Bieleńska
    • 1
    • 2
  1. 1.Chair and Department of Medical GeneticsPoznań University of Medical SciencesPoland
  2. 2.Centre for Medical Genetics in PoznańPoland
  3. 3.Department of Infectious Diseases and Child NeurologyPoznań University of Medical SciencesPoland