PERAN GEN TWIST PADA KROMOSOM 7P21 TERHADAP KEJADIAN SINDROM SAETHRE-CHOTZEN

Reza Maulana

Abstract


Abstrak. Sindrom Saethre-Chotzen merupakan salah satu tipe dari acrocephalosindaktili. Sindrom ini dapat menyebabkan terjadinya craniosinostosis berupa penutupan/penyatuan dini sutura-sutura cranial sehingga dapat menimbulkan malformasi saat kelahiran. Sindrom ini disebabkan mutasi gen TWIST pada kromosom 7p21 yang merupakan regulator transisi epithelial-mesenkim dan migrasi selular pada tahap awal perkembangan fetus. Gen TWIST akan menginisiasi perkembangan mesoderm yang berlanjut pada perkembangan tulang, jantung, otot, dan berbagai sel lainnya. Pemeriksaan klinis harus dilakukan untuk menegakkan diagnosis, tidak hanya pemeriksaan tulang kepala, namun juga bagian lain yang terkait dengan sindrom ini.

Abstract. Saethre-Chotzen syndromeis one of Acrocephalussyndactyly type. This syndromecause a craniosynostosisin the form ofearly closure/unification of the cranialsutures that can causemalformations at birth. This syndrome is causedby a mutation of TWIST geneon chromosome7p21which is aregulatorof epithelial-mesenchymal transitionandcellularmigrationin the early stagesof fetaldevelopment. TWIST genewill initiatethe development ofmesodermwhichcontinues onthe development of bones, heart, muscles, anda variety ofother cells.Clinical examination should beperformed toestablish the diagnosis, notonly the examination ofthe skull, butalsoother parts associated with this syndrome.

 

 

 


Keywords


Sindrom Saethre-Chotzen; gen TWIST; 7p21; craniosinostosis; Saethre-Chotzen syndrome; TWIST gene; 7p21; craniosynostosis

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References


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