Title: Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)
Authors: Debeer, Philippe ×
Van Esch, Hilde
Huysmans, C
Pijkels, Elly
De Smet, Luc
Van de Ven, Willem
Devriendt, Koenraad
Fryns, Jean-Pierre #
Issue Date: Oct-2005
Series Title: European Journal of Medical Genetics vol:48 issue:4 pages:377-387
Abstract: Oculo-dento-digital dysplasia (ODDD) is an autosomal dominant disorder characterized by developmental anomalies of the face, the eyes, the limbs and the teeth. Patients with ODDD usually present with complete syndactyly of the fourth and fifth fingers (type III syndactyly), ocular changes, abnormalities of primary and permanent dentition and specific craniofacial malformations. Mutations in GJA1, a gene that encodes the gap junction protein connexin 43, are responsible for ODDD. Gap junctions are assemblies of intercellular channels that allow exchange of various ions and signaling molecules between cells. In this way, gap junctions play an important regulatory role in a variety of physiologic and developmental processes. We identified three novel and one previously described GJA1 mutation in two large ODDD families and two sporadic ODDD cases.
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Associated Laboratories - miscellaneous (-)
Research Group for Musculoskeletal Rehabilitation
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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