Balkan Journal of Medical Genetics

COMPREHENSIVE GENETIC EVALUATION OF BULGARIAN CHILDREN WITH SYNDROMIC CRANIOSYNOSTOSIS
Delchev T.1, Hadjidekova S.2, Bichev S.3, Veleva Ts.1, Boneva I.4, Avdjieva-Tzavella D.1
*Corresponding Author: Trayan Delchev, MD, PhD, Department of Clinical genetics, University Children Hospital, Medical University of Sofia; Sofia, Bulgaria, Ivan Geshov blvd. No 11, tel: +359883482376, e-mail: trayan_delchev@abv.bg
page: 6

INTRODUCTION

Craniosynostosis (CRS) is the process of premature fusion and ossification of one or more cranial sutures [1]. It has a cumulative incidence of about 1 in 2500 newborn children [2]. When untreated, craniosynostosis can lead to serious medical complications – increased intracranial pressure, mental retardation, hearing or vision defects, behavioural anomalies, craniofacial asymmetry and dysmorphism, seizures [3]. CRS can be classified as syndromic – when the cranial synostosis is a part of a malformative syndrome or nonsyndromic – when it presents as an isolated feature. Nonsyndromic craniosynostosis constitutes about 80% of all known cases [4]. The syndromic craniosynostosis (SC) is considerably rarer – 20 % of all repoted cases. About 30% of the SC are mainly attributed to pathogenic variants in certain genes (FGFR1, FGFR2, FGFR3, TWIST1, EFNB1, MSX2, RAB23, RUNX2) [4]. They are inherited in an autosomal dominant pattern (except for RAB23) with variable penetrance and expressivity. Chromosomal anomalies account for about 16% of syndromic craniosynostosis cases [4]. MLPA and array CGH offer similar diagnostic value in literature and can be used in tandem to confirm a certain finding [4]. Despite the scientific achievements in the last two decades, the genetic basis of craniosynostosis remains rather poorly understood. Trying to clarify the complex genetic factors involved in the pathogenesis of syndromic craniosynostosis, we investigated 39 children by carrying out a systematic, combined approach consisting of conventional cytogenetics, MLPA and aCGH.

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