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Pathogenic REST variant causing Jones syndrome and a review of the literature |
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| Author: | Rahikkala, Elisa1,2; Julku, Johanna3; Koskinen, Sari3; |
| Organizations: |
1PEDEGO Research Unit, University of Oulu, Oulu, Finland 2Department of Clinical Genetics and Medical Research Center, Oulu University Hospital, Oulu, Finland 3Department of Oral and Maxillofacial Diseases, Oulu University Hospital, Oulu, Finland
4Department of Medical Reporting and Genomics, Centogene GmbH, Rostock, Germany
5Department of Otorhinolaryngology and Phoniatrics, Oulu University Hospital, Oulu, Finland |
| Format: | article |
| Version: | published version |
| Access: | open |
| Online Access: | PDF Full Text (PDF, 1.1 MB) |
| Persistent link: | http://urn.fi/urn:nbn:fi-fe2023052648398 |
| Language: | English |
| Published: |
Springer Nature,
2023
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| Publish Date: | 2023-05-26 |
| Description: |
AbstractJones syndrome is a rare dominantly inherited syndrome characterized by gingival fibromatosis and progressive sensorineural hearing loss becoming symptomatic in the second decade of life. Here, we report a father and his two daughters presenting with a typical Jones syndrome (OMIM %135550) phenotype. Exome sequencing identified a repressor element 1-silencing transcription factor (REST, OMIM *600571) (NM_005612.5) c.2670_2673del p.(Glu891Profs*6) heterozygous variant segregating with Jones syndrome in the family. We review the clinical data from all previously published patients with Jones syndrome and previously published patients with pathogenic REST variants associated with gingival fibromatosis or sensorineural hearing loss. This study suggests that pathogenic REST variants cause Jones syndrome. see all
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| Series: |
European journal of human genetics |
| ISSN: | 1018-4813 |
| ISSN-E: | 1476-5438 |
| ISSN-L: | 1018-4813 |
| Volume: | 31 |
| Issue: | 4 |
| Pages: | 469 - 473 |
| DOI: | 10.1038/s41431-022-01258-9 |
| OADOI: | https://oadoi.org/10.1038/s41431-022-01258-9 |
| Type of Publication: |
A1 Journal article – refereed |
| Field of Science: |
3111 Biomedicine |
| Subjects: | |
| Funding: |
This study was funded by Academy of Finland (grant number 338446), Uolevi Mäki Foundation, and the Competitive State Research Financing of the Expert Responsibility Area of Oulu University Hospital (grant number VTR K36733). We thank the family who participated in this study. Open Access funding provided by University of Oulu including Oulu University Hospital. |
| Academy of Finland Grant Number: |
338446 |
| Detailed Information: |
338446 (Academy of Finland Funding decision) |
| Copyright information: |
© The Author(s) 2022. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
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https://creativecommons.org/licenses/by/4.0/ |