J Genet Med.  2015 Jun;12(1):1-5. 10.5734/JGM.2015.12.1.1.

The role of de novo variants in complex and rare diseases pathogenesis

• Rahman M
• Lee W
• Choi M

• KMID: 2055582
• DOI: http://doi.org/10.5734/JGM.2015.12.1.1

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.

Keyword

De novo variants; Autistic disorder; Congenital heart disease; Schizophrenia; Rare diseases

MeSH Terms

Autistic Disorder
Diagnosis
Embryonic Development
Female
Fertilization
Genome
Germ Cells
Heart Defects, Congenital
Humans
Parents
Pregnancy
Rare Diseases*
Schizophrenia