Bibliographic Details
| Title: |
Kagami Ogata syndrome: a small deletion refines critical region for imprinting |
| Authors: |
Gonench Kilich, Kelly Hassey, Edward M. Behrens, Marni Falk, Adeline Vanderver, Daniel J. Rader, Patrick J. Cahill, Anna Raper, Zhe Zhang, Dawn Westerfer, Tanaya Jadhav, Laura Conlin, Kosuke Izumi, Ramakrishnan Rajagopalan, Kathleen E. Sullivan, UDN Consortium |
| Source: |
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-6 (2024) |
| Publisher Information: |
Nature Portfolio, 2024. |
| Publication Year: |
2024 |
| Collection: |
LCC:Medicine
LCC:Genetics |
| Subject Terms: |
Medicine, Genetics, QH426-470 |
| More Details: |
Abstract Kagami–Ogata syndrome is a rare imprinting disorder and its phenotypic overlap with multiple different etiologies hampers diagnosis. Genetic etiologies include paternal uniparental isodisomy (upd(14)pat), maternal allele deletions of differentially methylated regions (DMR) in 14q32.2 or pure primary epimutations. We report a patient with Kagami–Ogata syndrome and an atypical diagnostic odyssey with several negative standard-of-care genetic tests followed by epigenetic testing using methylation microarray and a targeted analysis of whole-genome sequencing to reveal a 203 bp deletion involving the MEG3 transcript and MEG3:TSS-DMR. Long-read sequencing enabled the simultaneous detection of the deletion, phasing, and biallelic hypermethylation of the MEG3:TSS-DMR region in a single assay. This case highlights the challenges in the sequential genetic testing paradigm, the utility of long-read sequencing as a single comprehensive diagnostic assay, and the smallest reported deletion causing Kagami–Ogata syndrome allowing important insights into the mechanism of imprinting effects at this locus. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2056-7944 |
| Relation: |
https://doaj.org/toc/2056-7944 |
| DOI: |
10.1038/s41525-023-00389-2 |
| Access URL: |
https://doaj.org/article/18c87511f1c04d91a6e404df341c6e2e |
| Accession Number: |
edsdoj.18c87511f1c04d91a6e404df341c6e2e |
| Database: |
Directory of Open Access Journals |
