Publication Date
1-1-2025
Journal
Case Reports in Genetics
DOI
10.1155/crig/4973753
PMID
40761536
PMCID
PMC12321432
PubMedCentral® Posted Date
7-25-2025
PubMedCentral® Full Text Version
Post-print
Abstract
Uniparental disomy (UPD) constitutes an unconventional mode of inheritance that disrupts the typical biparental genetic contribution and may result in phenotypic abnormalities. This report centers on a patient diagnosed with Bartter syndrome Type 1, attributed to a homozygous pathogenic variant in SLC12A1 unmasked by mosaic paternal UPD of chromosome 15. We hypothesize that this pattern (or constellation) emerged from a trisomy rescue event, resulting in two distinct cell lines. Concurrently, the unmasking of a pathogenic paternal SLC12A1 variant by trisomy rescue resulted in the manifestation of Bartter syndrome Type 1. The maternally derived ring chromosome 15 and its impact on nondisjunction and UPD elucidate a unique etiology of Bartter syndrome. Furthermore, the presence of a pathogenic paternal SLC12A1 variant underscores the pivotal role of trisomic rescue and paternal UPD in unveiling a recessive variant.
Keywords
Angelman syndrome, Bartter syndrome, mosaicism, ring chromosome 15, uniparental disomy, UPD
Published Open-Access
yes
Recommended Citation
Lee Curtis, David; Bekheirnia, Nasim; Potocki, Lorraine; et al., "Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report" (2025). Faculty and Staff Publications. 5010.
https://digitalcommons.library.tmc.edu/baylor_docs/5010
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