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KMID : 1189120150120010001
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대한의학유전학회지
2015 Volume.12 No. 1 p.1 ~ p.5
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The role of de novo variants in complex and rare diseases pathogenesis
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Rahman Mahir
Lee Woo-Hyung
Choi Mu-Rim
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Abstract
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De novo variants (DNVs) can arise during parental germ cell formation, fertilization, and the processes of embryogenesis. It is estimated that each individual carries 60-100 such spontaneous variants in the genome, most of them benign. However, a number of recent studies suggested that DNVs contribute to the pathogenesis of a variety of human diseases. Applications of DNVs include aiding in clinical diagnosis and identifying disease-causing genetic factors in patients with atypical symptoms. Therefore, understanding the roles of DNVs in a trio, with healthy parents and an affected offspring, would be crucial in elucidating the genetic mechanism of disease pathogenesis in a personalized manner.
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KEYWORD
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De novo variants, Autistic disorder, Congenital heart disease, Schizophrenia, Rare diseases
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