Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome Article Swipe
Valentina Lodato
,
Massimo Galli
,
Giacomo D’Angeli
,
Irene Bottillo
,
Luca Celli
,
Rosaria Turchetta
,
Andrea Colizza
,
Francesca Gianno
,
Biagio Palmisano
,
Francesca Romana Federici Stanganelli
,
Maria Rita Bianco
,
Daniela Messineo
,
Eugenia Allegra
,
Paola Grammatico
,
Mara Riminucci
,
Alessandro Corsi
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1111/cge.70017
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1111/cge.70017
Jones syndrome (JS) is an ultra‐rare autosomal dominant condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been recently demonstrated in members of a Finnish family to co‐segregate with heterozygosity for a frameshift variant in the fifth and last exon of the repressor element 1‐silencing transcription factor gene ( REST ). Here, we report the first Italian family in which JS was diagnosed in the proband, a 38‐year‐old woman, and in her mother. Exome Sequencing identified in both, but not in clinically unaffected members of the family (i.e., a sister and the brother of the proband), the heterozygous pathogenic variant c.2645T>G (p.Leu882*) in exon‐5 of the REST gene. This study confirms that exon‐5 REST variants cause JS.
Related Topics
Concepts
Proband
Exon
Frameshift mutation
Genetics
Exome sequencing
Loss of heterozygosity
Biology
Rest (music)
Gene
Mutation
Medicine
Allele
Internal medicine
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1111/cge.70017
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.70017
- OA Status
- hybrid
- References
- 22
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4412011995
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4412011995Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1111/cge.70017Digital Object Identifier
- Title
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Novel Pathogenic Variant Confirms the Association of REST and Jones SyndromeWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2025Year of publication
- Publication date
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2025-07-02Full publication date if available
- Authors
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Valentina Lodato, Massimo Galli, Giacomo D’Angeli, Irene Bottillo, Luca Celli, Rosaria Turchetta, Andrea Colizza, Francesca Gianno, Biagio Palmisano, Francesca Romana Federici Stanganelli, Maria Rita Bianco, Daniela Messineo, Eugenia Allegra, Paola Grammatico, Mara Riminucci, Alessandro CorsiList of authors in order
- Landing page
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https://doi.org/10.1111/cge.70017Publisher landing page
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.70017Direct link to full text PDF
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YesWhether a free full text is available
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hybridOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.70017Direct OA link when available
- Concepts
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Proband, Exon, Frameshift mutation, Genetics, Exome sequencing, Loss of heterozygosity, Biology, Rest (music), Gene, Mutation, Medicine, Allele, Internal medicineTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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10Other works algorithmically related by OpenAlex
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