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Case Reports in Genetics
Volume 2013 (2013), Article ID 748057, 4 pages
http://dx.doi.org/10.1155/2013/748057
Case Report

Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene

1Paediatrics Department, Centro Hospitalar de Vila Nova de Gaia/Espinho, EPE, Unidade II, 4400-129 Vila Nova de Gaia, Portugal
2Orthopaedics Department, Centro Hospitalar de Vila Nova de Gaia/Espinho, EPE, Unidade II, 4400-129 Vila Nova de Gaia, Portugal

Received 25 February 2013; Accepted 26 March 2013

Academic Editors: D. J. Bunyan, C.-W. Cheng, P. D. Cotter, S. F. Grant, and G. Velagaleti

Copyright © 2013 Catarina Dias et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Background. Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant skeletal dysplasia caused by defects involving the TRPS1 gene. Three types (TRPSs I, II, and III) have been described, exhibiting the common triad of hair, craniofacial, and skeletal abnormalities. TRPS II includes the additional characteristics of mental retardation and multiple exostoses. Case Report. We describe a sporadic case of TRPS type I in a child with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity—c.1198C>T (p. Gln400X) and c.2086C>T (p.Arg696X). None of these mutations were found in her parents. Clinical presentation included typical hair and facial features, as well as slight skeletal abnormalities. Discussion. There is a wide variability in clinical expression of TRPS I. Manifestations of the disease can be subtle, yet skeletal anomalies imply that TRPS I is more than an esthetic problem. Clinical and genetic diagnosis allows adequate followup and timely therapeutic procedures. When a single mutation was sufficient for the onset of the disease, our patient presented two different ones.