Zeitschrift für genetische Syndrome und Gentherapie
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Study of a Family Presenting Novel Mutation of the TCOF1 Gene Associated with Treacher Collins Syndrome

Dell’Edera Domenico, Tinelli Andrea, Pacella Elena, Malvasi Antonio, Novelli Antonio, Conte Chiara, Bertoli Marta, Alesi Viola, Monti Condesnitt Vito and Epifania Annunziata Anna

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