The Clinical Spectrum of Mosaic Genetic Disease

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...

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Bibliographic Details
Published in:Genes 2024-09, Vol.15 (10), p.1240
Main Authors: Geiger, Hanabi, Furuta, Yutaka, van Wyk, Suné, Phillips, 3rd, John A, Tinker, Rory J
Format: Article
Language:English
Subjects:
Anemia
Development and progression
Disease
Diseases
Females
Genes
Genetic Diseases, Inborn - genetics
Genetic disorders
Genetic diversity
Genotype & phenotype
Genotypes
Humans
Mosaicism
Mutation
Phenotype
Review
X chromosomes
Zygotes
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Summary: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.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes15101240