University of Oulu

Rahikkala, E., Julku, J., Koskinen, S. et al. Pathogenic REST variant causing Jones syndrome and a review of the literature. Eur J Hum Genet 31, 469–473 (2023).

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)
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Language: English
Published: Springer Nature, 2023
Publish Date: 2023-05-26


Jones 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.

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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
Type of Publication: A1 Journal article – refereed
Field of Science: 3111 Biomedicine
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)
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