Özet:

Intellectual disability (ID) refers to a diverse group of disorders with marked heterogeneity in both clinical presentation and genetic etiology. Some cases of ID are associated with distinctive clinical findings that can lead to specific clinical and molecular diagnoses. However, sporadic cases of ID also occur in which the molecular pathogenesis cannot be identified via clinical diagnosis, and the genetic etiology is often unknown. New genomic technologies such as whole-exome sequencing, in which selective sequencing of all protein-coding genomic regions is performed, have proved to be the most efficient and cost-effective approach for identifying disease-causing variants in neurodevelopmental disorders, even in small nuclear families. Successful gene discovery efforts will lead to an improved understanding of the cellular and molecular mechanisms underpinning cases of individuals diagnosed with neurodevelopmental disorders, will inform screening programs and will promote the development of novel and more effective pharmacotherapies of personalized approaches to medical management. Keywords: Intellectual disability; next-generation sequencing; novel gene identification.

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