Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT )
Article Swipe
Michela Bellardita
,
Ferruccio Romano
,
Ludovica Menta
,
Joana Soraia Martinheira Da Silva
,
Marzia Ognibene
,
Sımona Baldassari
,
Marco Di Duca
,
Chiara Panicucci
,
Serena Baratto
,
Noemi Brolatti
,
Marina Pedemonte
,
Chiara Fiorillo
,
Claudio Bruno
,
Marcello Scala
,
Federico Zara
,
Francesca Faravelli
,
Francesca Madia
,
Serena Cappato
,
Renata Bocciardi
,
Valeria Capra
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1002/mgg3.70126
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1002/mgg3.70126
Background Distal arthrogryposis with impaired proprioception and touch (DAIPT) is a rare autosomal recessive neurological disease characterized by progressive alteration of mechanosensation. DAIPT is caused by loss of function variants in the PIEZO2 gene that encodes an ionic channel involved in mechanotransduction signaling. Our study started from the case of an 11‐year‐old boy with skeletal and neuromuscular features suggestive of DAIPT. Methods Exome sequencing was performed on the trio. The identified variants in PIEZO2 were validated by Sanger sequencing. Functional assays of the variants were performed by minigene assay in HEK‐293 cells and on patient‐derived cells using NMD inhibitors. Results Trio exome sequencing revealed the presence of two novel variants in the PIEZO2 gene: a nonsense variant (c.1924G>T; p.Glu642*) and an intronic variant of uncertain significance (c.2170‐15A>G). Functional analysis demonstrated that the intronic variant disrupts splicing, leading to premature stop codon formation and possible mRNA targeting to nonsense‐mediated mRNA decay (NMD). Molecular study in patient‐derived fibroblasts with specific NMD inhibitors shows that transcripts derived from both alleles are degraded by NMD, thus confirming the effect of the nonsense variant and enabling reclassification of the VUS. Conclusion We present the phenotypic and genetic description of a patient with features suggestive of DAIPT carrying novel biallelic variants in PIEZO2 , one of which could be reclassified as pathogenic after functional assays. This study also provides a detailed review of all the published patients with DAIPT and expands the phenotypic and genetic understanding of DAIPT, aiding in diagnosis, genetic counseling, and clinical management.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/mgg3.70126
- OA Status
- gold
- References
- 26
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4413048323
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Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4413048323Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1002/mgg3.70126Digital Object Identifier
- Title
-
Functional Characterization of a Novel Intronic Variant in
PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT )Work title - Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-08-01Full publication date if available
- Authors
-
Michela Bellardita, Ferruccio Romano, Ludovica Menta, Joana Soraia Martinheira Da Silva, Marzia Ognibene, Sımona Baldassari, Marco Di Duca, Chiara Panicucci, Serena Baratto, Noemi Brolatti, Marina Pedemonte, Chiara Fiorillo, Claudio Bruno, Marcello Scala, Federico Zara, Francesca Faravelli, Francesca Madia, Serena Cappato, Renata Bocciardi, Valeria CapraList of authors in order
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https://doi.org/10.1002/mgg3.70126Publisher landing page
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YesWhether a free full text is available
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-
goldOpen access status per OpenAlex
- OA URL
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https://doi.org/10.1002/mgg3.70126Direct OA link when available
- Concepts
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Genetics, Exome sequencing, Sanger sequencing, Biology, Nonsense, Phenotype, Exon skipping, Nonsense-mediated decay, Nonsense mutation, Gene, Mutation, RNA splicing, Alternative splicing, Exon, Missense mutation, RNATop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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26Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.were | 75, 85 |
| abstract_inverted_index.with | 4, 54, 157, 197, 232 |
| abstract_inverted_index.DAIPT | 23, 201, 233 |
| abstract_inverted_index.Exome | 63 |
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| abstract_inverted_index.assay | 89 |
| abstract_inverted_index.cells | 92, 96 |
| abstract_inverted_index.codon | 141 |
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| abstract_inverted_index.study | 45, 153, 221 |
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| abstract_inverted_index.trio. | 69 |
| abstract_inverted_index.using | 97 |
| abstract_inverted_index.which | 211 |
| abstract_inverted_index.(NMD). | 151 |
| abstract_inverted_index.DAIPT, | 242 |
| abstract_inverted_index.DAIPT. | 61 |
| abstract_inverted_index.Distal | 2 |
| abstract_inverted_index.PIEZO2 | 33, 74, 113, 207 |
| abstract_inverted_index.Sanger | 78 |
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| abstract_inverted_index.(DAIPT) | 9 |
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| abstract_inverted_index.Results | 100 |
| abstract_inverted_index.alleles | 167 |
| abstract_inverted_index.assays. | 219 |
| abstract_inverted_index.channel | 39 |
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| abstract_inverted_index.encodes | 36 |
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| abstract_inverted_index.detailed | 225 |
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| abstract_inverted_index.enabling | 181 |
| abstract_inverted_index.features | 58, 198 |
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| abstract_inverted_index.possible | 144 |
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| abstract_inverted_index.revealed | 104 |
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| abstract_inverted_index.specific | 158 |
| abstract_inverted_index.variants | 30, 72, 84, 110, 205 |
| abstract_inverted_index.HEK‐293 | 91 |
| abstract_inverted_index.Molecular | 152 |
| abstract_inverted_index.autosomal | 13 |
| abstract_inverted_index.biallelic | 204 |
| abstract_inverted_index.formation | 142 |
| abstract_inverted_index.performed | 66, 86 |
| abstract_inverted_index.premature | 139 |
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| abstract_inverted_index.recessive | 14 |
| abstract_inverted_index.splicing, | 136 |
| abstract_inverted_index.targeting | 146 |
| abstract_inverted_index.uncertain | 125 |
| abstract_inverted_index.validated | 76 |
| abstract_inverted_index.Background | 1 |
| abstract_inverted_index.Conclusion | 186 |
| abstract_inverted_index.Functional | 80, 128 |
| abstract_inverted_index.alteration | 20 |
| abstract_inverted_index.confirming | 173 |
| abstract_inverted_index.diagnosis, | 245 |
| abstract_inverted_index.functional | 218 |
| abstract_inverted_index.identified | 71 |
| abstract_inverted_index.inhibitors | 160 |
| abstract_inverted_index.p.Glu642*) | 119 |
| abstract_inverted_index.pathogenic | 216 |
| abstract_inverted_index.phenotypic | 190, 237 |
| abstract_inverted_index.sequencing | 64, 103 |
| abstract_inverted_index.signaling. | 43 |
| abstract_inverted_index.suggestive | 59, 199 |
| abstract_inverted_index.counseling, | 247 |
| abstract_inverted_index.description | 193 |
| abstract_inverted_index.fibroblasts | 156 |
| abstract_inverted_index.inhibitors. | 99 |
| abstract_inverted_index.management. | 250 |
| abstract_inverted_index.progressive | 19 |
| abstract_inverted_index.sequencing. | 79 |
| abstract_inverted_index.transcripts | 163 |
| abstract_inverted_index.demonstrated | 130 |
| abstract_inverted_index.neurological | 15 |
| abstract_inverted_index.reclassified | 214 |
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| abstract_inverted_index.characterized | 17 |
| abstract_inverted_index.neuromuscular | 57 |
| abstract_inverted_index.understanding | 240 |
| abstract_inverted_index.(c.1924G>T; | 118 |
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| abstract_inverted_index.proprioception | 6 |
| abstract_inverted_index.11‐year‐old | 52 |
| abstract_inverted_index.reclassification | 182 |
| abstract_inverted_index.mechanosensation. | 22 |
| abstract_inverted_index.patient‐derived | 95, 155 |
| abstract_inverted_index.mechanotransduction | 42 |
| abstract_inverted_index.nonsense‐mediated | 148 |
| abstract_inverted_index.(c.2170‐15A>G). | 127 |
| cited_by_percentile_year | |
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| institutions_distinct_count | 20 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.44999998807907104 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.42600173 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |