alexa Study of a Family Presenting Novel Mutation of the TCOF1 Gene Associated with Treacher Collins Syndrome | OMICS International | Abstract
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Case Report

Study of a Family Presenting Novel Mutation of the TCOF1 Gene Associated with Treacher Collins Syndrome

Dell’Edera Domenico1*, Tinelli Andrea3, Pacella Elena6, Malvasi Antonio2, Novelli Antonio4, Conte Chiara4, Bertoli Marta4, Alesi Viola4, Monti Condesnitt Vito5 and Epifania Annunziata Anna1

1Unit of Cytogenetic and Molecular Genetics, Madonna delle Grazie Hospital, Matera, Italy

2Obstetric and Gynecology, Department Santa Maria Hospital, Bari, Italy

3Obstetric and Gynecology, Department V. Fazzi Hospital, Lecce, Italy

4Unit of Medical Genetics, San Pietro FBF Hospital, Rome, Italy

5Local Public Health, Taranto, Italy

6Department of Ophthalmology, University of Rome, Rome, Italy

*Corresponding Author:
Domenico Dell’Edera
Unit of Cytogenetic and Molecular Genetics
Madonna delle Grazie Hospital
Matera, 75100 Matera, Italy
Tel: +39 0835253439
Fax: +39 0835253863
E-mail: [email protected]

Received date: May 15, 2012; Accepted date:June 28, 2012; Published date: July 10, 2012

Citation: Domenico D, Andrea T, Elena P, Antonio M, Antonio N, et al. (2012) Study of a Family Presenting Novel Mutation of the TCOF1 Gene Associated with Treacher Collins Syndrome. J Genet Syndr Gene Ther 3:117. doi:10.4172/2157-7412.1000117

Copyright: © 2012 Domenico D, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Treacher Collins syndrome (TCS), due to a mutation in the treacle gene (5q31-32), is the most common type of Mandibulofacial Dysostosis (MDF). The most important features of the considered diseases are hypoplasia, micrognathia, microtia, conductive hearing loss, and cleft palate. In this paper molecular and clinical analysis in a family with several members affected by MFD are reported. Clinical signs as well as inheriting pattern have been considered to reach a correct diagnosis. As genealogic tree showed Autosomic Dominant pattern (AD), Autosomic recessive diseases were not considered in different diagnosis. Furthermore, pathognomonic signs drew us to focus the attention on the possibility that Treacher Collins Syndrome occurred.The molecular research of gene TCOF1 confirmed the presence of a mutation that have never been described in literature before now (c.599delG.). MFD occurs in clinical and genetic different typologies of diseases, and in most cases a certain diagnosis can be reached by means of molecular genetics analysis


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