Christos Yapijakis1,2,3, Stefania Kalogera4, Antonia Angelopoulou4, Georgios Paraskevas5, Elisabeth Kapaki5. 1. Unit of Orofacial Genetics, First Department of Pediatrics, National Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece. cyapi@med.uoa.gr. 2. Department of Oral and Maxillofacial Surgery, School of Medicine, National and Kapodistrian University of Athens, Attikon Hospital, Athens, Greece. cyapi@med.uoa.gr. 3. Department of Molecular Genetics, Cephalogenetics Diagnostic Center, Athens, Greece. cyapi@med.uoa.gr. 4. Department of Molecular Genetics, Cephalogenetics Diagnostic Center, Athens, Greece. 5. First Department of Neurology, School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.
Abstract
INTRODUCTION: Oculodentodigital syndrome (ODDS) is a rare genetic disorder caused by mutations in the gap junction GJA1 gene encoding connexin-43 (chromosome 6q22). A typical ODDS case is presented. MATERIAL AND METHODS: A 40-year-old male patient was examined neurologically and genetically. He had a history of recent parieto-occipital leukodystrophy, some episodes of temporary hearing loss, and characteristic facial features of ODDS. Sequencing of the GJA1 gene was performed in patient's total genomic DNA sample isolated from peripheral blood cells. RESULTS: A novel heterozygous missense mutation (443G>A) was identified in the GJA1 gene, resulting in coding for a different amino acid (Arg148Gln). CONCLUSION: The molecular genetic analysis confirmed the diagnosis of ODDS. The novel mutation, located within a calmodulin binding region of connexin-43, probably affects proper channel function.
INTRODUCTION: Oculodentodigital syndrome (ODDS) is a rare genetic disorder caused by mutations in the gap junction GJA1 gene encoding connexin-43 (chromosome 6q22). A typical ODDS case is presented. MATERIAL AND METHODS: A 40-year-old male patient was examined neurologically and genetically. He had a history of recent parieto-occipital leukodystrophy, some episodes of temporary hearing loss, and characteristic facial features of ODDS. Sequencing of the GJA1 gene was performed in patient's total genomic DNA sample isolated from peripheral blood cells. RESULTS: A novel heterozygous missense mutation (443G>A) was identified in the GJA1 gene, resulting in coding for a different amino acid (Arg148Gln). CONCLUSION: The molecular genetic analysis confirmed the diagnosis of ODDS. The novel mutation, located within a calmodulin binding region of connexin-43, probably affects proper channel function.