Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge
Pathogenic genetic variants represent a challenge in prenatal counseling, especially when clinical presentation in familial carriers is atypical. We describe a prenatal case involving a microarray-detected duplication of PLP1 which causes X-linked Pelizaeus-Merzbacher disease, a progressive hypomyel...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-07-01
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| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1173426/full |
| _version_ | 1827893895400259584 |
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| author | Mihael Rogac Mihael Rogac Anja Kovanda Anja Kovanda Luca Lovrečić Luca Lovrečić Borut Peterlin Borut Peterlin |
| author_facet | Mihael Rogac Mihael Rogac Anja Kovanda Anja Kovanda Luca Lovrečić Luca Lovrečić Borut Peterlin Borut Peterlin |
| author_sort | Mihael Rogac |
| collection | DOAJ |
| description | Pathogenic genetic variants represent a challenge in prenatal counseling, especially when clinical presentation in familial carriers is atypical. We describe a prenatal case involving a microarray-detected duplication of PLP1 which causes X-linked Pelizaeus-Merzbacher disease, a progressive hypomyelinating leukodystrophy. Because of atypical clinical presentation in an older male child, the duplication was examined using a novel technology, optical genome mapping, and was found to be an inverted duplication, which has not been previously described. Simultaneously, segregation analysis identified another healthy adult male carrier of this unique structural rearrangement. The novel PLP1 structural variant was reclassified, and a healthy boy was delivered. In conclusion, we suggest that examining structural variants with novel methods is warranted especially in cases with atypical clinical presentation and may in these cases lead to improved prenatal and postnatal genetic counseling. |
| first_indexed | 2024-03-12T21:59:28Z |
| format | Article |
| id | doaj.art-d9058c7c6fd04ed3b34adce21573c7bd |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-03-12T21:59:28Z |
| publishDate | 2023-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-d9058c7c6fd04ed3b34adce21573c7bd2023-07-25T11:20:47ZengFrontiers Media S.A.Frontiers in Genetics1664-80212023-07-011410.3389/fgene.2023.11734261173426Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challengeMihael Rogac0Mihael Rogac1Anja Kovanda2Anja Kovanda3Luca Lovrečić4Luca Lovrečić5Borut Peterlin6Borut Peterlin7Clinical Institute of Genomic Medicine, University Medical Center Ljubljana, Ljubljana, SloveniaFaculty of Medicine, University of Ljubljana, Ljubljana, SloveniaClinical Institute of Genomic Medicine, University Medical Center Ljubljana, Ljubljana, SloveniaFaculty of Medicine, University of Ljubljana, Ljubljana, SloveniaClinical Institute of Genomic Medicine, University Medical Center Ljubljana, Ljubljana, SloveniaFaculty of Medicine, University of Ljubljana, Ljubljana, SloveniaClinical Institute of Genomic Medicine, University Medical Center Ljubljana, Ljubljana, SloveniaFaculty of Medicine, University of Ljubljana, Ljubljana, SloveniaPathogenic genetic variants represent a challenge in prenatal counseling, especially when clinical presentation in familial carriers is atypical. We describe a prenatal case involving a microarray-detected duplication of PLP1 which causes X-linked Pelizaeus-Merzbacher disease, a progressive hypomyelinating leukodystrophy. Because of atypical clinical presentation in an older male child, the duplication was examined using a novel technology, optical genome mapping, and was found to be an inverted duplication, which has not been previously described. Simultaneously, segregation analysis identified another healthy adult male carrier of this unique structural rearrangement. The novel PLP1 structural variant was reclassified, and a healthy boy was delivered. In conclusion, we suggest that examining structural variants with novel methods is warranted especially in cases with atypical clinical presentation and may in these cases lead to improved prenatal and postnatal genetic counseling.https://www.frontiersin.org/articles/10.3389/fgene.2023.1173426/fullPelizaeus-Merzbacher diseasePLP1proteolipid protein geneoptical genome mappingmicroarrayinverted duplication |
| spellingShingle | Mihael Rogac Mihael Rogac Anja Kovanda Anja Kovanda Luca Lovrečić Luca Lovrečić Borut Peterlin Borut Peterlin Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge Frontiers in Genetics Pelizaeus-Merzbacher disease PLP1 proteolipid protein gene optical genome mapping microarray inverted duplication |
| title | Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge |
| title_full | Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge |
| title_fullStr | Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge |
| title_full_unstemmed | Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge |
| title_short | Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge |
| title_sort | optical genome mapping in an atypical pelizaeus merzbacher prenatal challenge |
| topic | Pelizaeus-Merzbacher disease PLP1 proteolipid protein gene optical genome mapping microarray inverted duplication |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1173426/full |
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