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

DISCUSSION

Clinical manifestation of TCS is widely variable, even in cases with the same mutation. Hypoplasia of zygomatic bones and downward slanting of palpebral fissures are the most common findings, but in some cases, these minimal diagnostic criteria may not be distinguished or evident during physical examination. No clear explanation exists for the different presentations of TCS. The wide variability has been attributed to modifier genes, epigenetic factors and the role of the non mutated alleles [8,9]. The patient described in this report was diagnosed on physical examination; the TCS diagnosis was subsequently confirmed by molecular analysis. She has a severe phenotype with a score of 18/20 when we evaluate her clinical characteristics according to the scoring system developed by Teber et al. [8]. In the literature, a previous report described four further TCS cases in which the same mutation was present [9]. The clinical characteristics of these cases are summarized in Table 1. As in our patient, one of the four previous cases is also of Turkish origin (Case 1, Table 1). The similarity of the clinical characteristics of the TCS in these two Turkish cases is dramatic. The only criteria that could not be assessed with respect to its similarity is speech development, which could not be evaluated in our patient due to her age. In the prenatal period, both mothers had a history of polyhydramnion, which is a common finding in pregnancies where a newborn is diagnosed with TCS [11-13]. For this reason, in pregnancies in which the mother experiences polyhydramnion and findings on ultrasound imaging are abnormal for the facial anatomy, the obstetrician may take the possibility of TCS into consideration. The remaining three cases also reported to have the c.1021_1022delAG mutation on the TCOF1 gene possess the minimal diagnostic criteria. Two of them are father and daughter from the same family; among five cases with the c.1021_1022delAG mutation, the mildest one is the father. As mentioned in previous reports [8,9], the wide variability in the clinical spectrum among cases in patients who carry the c.1021_1022delAG mutation on the TCOF1 gene reflects the differences in clinical presentation for TCS (Table 1) [8,9]. While all five cases possess at least the minimal diagnostic criteria for TCS, and the high degree of similarity in clinical features for the two severe Turkish cases is obvious, it still seems difficult to suggest the phenotype from the mutation status as usual in TCS. Declaration of Interest. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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