AI Article Synopsis
- In certain genetic cases, a second-hit mutation can occur in an embryo, leading to a condition called superimposed mosaicism, where both healthy and defective copies of a gene are present.
- The study reports two unrelated cases of Hailey-Hailey disease (HHD) exhibiting this type of mosaicism, where one case had a new, inherited mutation and the other involved a father with the variant but no symptoms.
- Both cases highlight that superimposed mosaicism can occur without a known family history of the disease, stressing the importance of genetic analysis for accurately diagnosing and assessing familial risks.
Article Abstract
A prenatal second-hit genetic change that occurs on the wild-type allele in an embryo with a congenital pathogenic variant allele results in mosaicism of monoallelic and biallelic defect of the gene, which is called superimposed mosaicism. Superimposed mosaicism of Hailey-Hailey disease (HHD) has been demonstrated in one familial case. Here, we report two unrelated HHD cases with superimposed mosaicism: a congenital monoallelic pathogenic variant of ATP2C1, followed by a postzygotic copy-neutral loss of heterozygosity. Uniquely, neither patient had a family history of HHD at the time of presentation. In the first case, the congenital pathogenic variant had occurred de novo. In the second case, the father had the pathogenic variant but had not yet developed skin symptoms. Our cases showed that superimposed mosaicism in HHD can lack a family history and that genetic analysis is crucial to classify the type of mosaicism and evaluate the risk of familial occurrence.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10250405 | PMC |
| http://dx.doi.org/10.1038/s41431-023-01316-w | DOI Listing |
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