The role of de novo variants in complex and rare diseases pathogenesis.
- Author:
Mahir RAHMAN
1
;
Woohyung LEE
;
Murim CHOI
Author Information
- Publication Type:Review
- Keywords: De novo variants; Autistic disorder; Congenital heart disease; Schizophrenia; Rare diseases
- MeSH: Autistic Disorder; Diagnosis; Embryonic Development; Female; Fertilization; Genome; Germ Cells; Heart Defects, Congenital; Humans; Parents; Pregnancy; Rare Diseases*; Schizophrenia
- From:Journal of Genetic Medicine 2015;12(1):1-5
- CountryRepublic of Korea
- Language:English
- Abstract: 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.
