Next-generation sequencing for detection of somatic mosaicism in autosomal dominant polycystic kidney disease.
other · Level V
Where this comes from
- Record sourced from PubMed, PMID 31980075.
- Also identified by DOI 10.1016/j.kint.2019.11.019.
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Abstract
Mosaicism is defined as the presence of 2 genetically different populations of cells in a single organism, resulting from a mutation during early embryogenesis. Hopp et al. characterized mosaicism in 20 unresolved ADPKD families, using next-generation sequencing techniques with DNA isolated from blood cells. Mosaicism may be involved in 1% of ADPKD families, and it may explain some atypical disease phenotypes.
Medical subject headings
- Polycystic Kidney, Autosomal Dominant