Mosaicism in Traditional Mendelian Diseases

Abstract
Somatic mutations are post-zygotic mutational event that leads to generation of two or more genotypes within an individual. With the recent advances in genomic technologies, there is an increasing recognition of the role of somatic mosaicism in Mendelian disease. Somatic mutation can occur at the chromosomal or the DNA sequence level and the distribution of somatic mosaicism among tissues depends on the timing of the mutation during fetal development. Certain types of somatic mutations are lethal when present in the germline and hence, are only seen in the somatic state, while there are other somatic mutations that have a milder phenotype than when present in the germline. Presence of somatic mutations can also modulate the clinical phenotype of an individual in certain diseases. In this review, we discuss the recent updates on somatic mosaicism in Mendelian diseases, types of somatic mutations, and methods to detect these somatic mutations.

Source: Current Genetic Medicine Reports - June 20, 2015 Category: Genetics & Stem Cells Source Type: research