Peer-reviewed veterinary case report
MSX1 Mutation in Witkop Syndrome; A Case Report
- Journal:
- Iranian Journal of Medical Sciences
- Year:
- 2013
- Authors:
- Faezeh Ghaderi et al.
- Affiliation:
- Department of Pediatric Dentistry, School of Dentistry, Shiraz University of Medical Sciences, Shiraz, Iran · IR
- Species:
- dog
Abstract
The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3’-UTR of MSX1 gene in the proband. The parents of the patient had no dental and nail anomalies.
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