The Clinical Spectrum of Mosaic Genetic Disease

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2024 Oct 26

PMID 39457364

Authors

Hanabi Geiger

Yutaka Furuta

Sune van Wyk

John A Phillips 3rd

Rory J Tinker

Affiliations

Soon will be listed here.

Abstract

Genetic mosaicism is defined as the presence of two or more cell lineages with different genotypes arising from a single zygote. Mosaicism has been implicated in hundreds of genetic diseases with diverse genetic etiologies affecting every organ system. Mosaic genetic disease (MDG) is a spectrum that, on the extreme ends, enables survival from genetic severe disorders that would be lethal in a non-mosaic form. On the milder end of the spectrum, mosaicism can result in little if any phenotypic effects but increases the risk of transmitting a pathogenic genotype. In the middle of the spectrum, mosaicism has been implicated in reducing the phenotypic severity of genetic disease. In this review will describe the spectrum of mosaic genetic disease whilst discussing the status of the detection and prevalence of mosaic genetic disease.

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