Balkan Journal of Medical Genetics

A CASE OF TREACHER COLLINS SYNDROME
Ulusal S1,*, Gürkan H1, Vatansever Ü2, Kürkçü K3, Tozkir H1, Acunaş BA2
*Corresponding Author: Dr. Selma Ulusal, Department of Medical Genetics, Trakya University, Faculty of Medicine, Edirne, Turkey; Tel.: +90-284-235-76-42-2346; Gsm: +90-533-2504116; Fax: +90-284-235-27-30; E-mail: selmaulusal@trakya.edu.tr
page: 77

INTRODUCTION

Treacher Collins syndrome (TCS, OMIM 154500), also known as mandibulofacial dysostosis, is a rare developmental disorder of the craniofacial region and is one of the most severe forms of mandibulofacial dysostosis syndromes [1]. The disease was named after the report of Treacher Collins in 1900 [2] and reviewed in detail by Franceschetti and Klein in 1949 [3]. The estimated incidence is about 1/50,000 live births [1]. Treacher Collins syndrome is transmitted in an autosomal dominant manner, but only 40.0% of cases are familial [1,4]. Mutations of the TCOF1 gene, which is located on 5q32-q33.1, have been found to be responsible for most of the cases. The TCOF1 gene encodes the treacle protein, a serine/alanine rich protein predicted to have an important role in ribosome biogenesis [5]. More than 130 mutations have been reported in the TCOF1 gene. Deletions ranging from 1 to 40 bases are the most common causes of TCS [6]. Clinical manifestations of TCS include downward slanting of palpebral fissures, hypoplasia of the zygomatic complex and the mandible, complete or partial cleft palate, coloboma of the lower eyelids, and atresia of external ear canals with abnormalities of the external ears accompanied by conductive hearing loss [7,8]. The phenotypic variability of the clinical symptoms in TCS is a major obstacle for its diagnosis. Although there is as yet no clear explanation, genotype and phenotype discordance have been reported in some studies [8,9]. Phenotypic expression of the syndrome is so mild in some individuals that they cannot be distinguished physically, while some others experience sudden death after birth due to the respiratory distress [10].

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact