Kamil Serkan AĞAÇAYAK, ELİF AĞAÇAYAK, Salih COŞKUN, Orhan AKSOY

Konjenital orofasiyal yarıklar: Etyolojisi ve sıklığı

Orofasial yarıklar toplumda ∼1/1000 oranında görülmekle birlikte damak ve dudakta beraber bazen de izole olarak görülmektedirler. Orofasial yarıkların etyolojisinde bir çok faktör rol almaktadır. Ayrıca etyolojisi multipl genetik ve çevresel faktörleri içermektedir. Bu patolojinin nadir formları mendeliyen ve teratojenik orijine sahip multipl konjenital anomaliye sahip sendromların bir komponenti olabilir. Herhangi bir sendromun eşlik etmediği izole orofasial yarıklar daha sık görülmekle birlikte etyolojide genelde çevresel faktörler rol oynamaktadır. Genetik biliminde moleküler ve kantitatif olarak meydana gelen gelişmeler bu patolojinin sendromik ve sendromik olmayan her iki tipinde de genetik mekanizmalarının rol oynuyor olabileceğini düşündürmektedir. Hayvan modellerinde yapılan çalışmalarda bu patolojinin etyolojisine ışık tutmaya çalışmaktadır. Biz bu derlememizle orofasial yarık içeren insan ve hayvan modellerinde genetik faktörleri değerlendirmek ve genetik ile çevresel faktörlerin birbiriyle ilişkisini belirlemeyi amaçladık.

Congenital orofacial clefts: Etiology and Frequency

Orofacial clefts are congenital structural anomalies of the lip and/or palate. These anomalies affect ~1/1000 in the community. The etiology of orofacial clefts is complex, including various genetic and environmental agents. Syndrome is not accompanied by any isolated orofacial clefts are more common, although environmental factors often play a role in the etiology. Mendelian or teratogenic origins; the non-syndromic forms of orofacial clefts are more common and are likely due to secondary geneenvironment interactions. Latest researches in both molecular and quantitative approaches have begun to identify the genes responsible for the rare syndromic forms of cleft and have also identified both candidate genes and loci for the more common and complex non-syndromic variants. Animal models, have also contributed greatly to an comprehension of these anomalies. We aimed to describes genes that are involved in orofacial clefts in humans and animal models and explores genetic approaches to identifying additional genes and geneenvironment interactions that constitute the many factors of orofacial clefts in this review.

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