Functional Characterization of a Novel Intronic Variant in <scp><i>PIEZO2</i></scp> in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (<scp>DAIPT</scp>)
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.
Authors
- Renata Bocciardi (ORCID: https://orcid.org/0000-0001-8415-3802)
- Joana Soraia Martinheira Da Silva
- Marzia Ognibene (ORCID: https://orcid.org/0000-0003-3698-9319)
- Sımona Baldassari (ORCID: https://orcid.org/0000-0002-5304-3608)
- Marco Di Duca (ORCID: https://orcid.org/0000-0001-8456-7706)
- Chiara Panicucci (ORCID: https://orcid.org/0000-0003-4571-611X)
- Serena Baratto (ORCID: https://orcid.org/0000-0002-4633-4933)
- Marcello Scala (ORCID: https://orcid.org/0000-0003-2194-7239)
- Valeria Capra (ORCID: https://orcid.org/0000-0002-3097-0388)
- Ferruccio Romano (ORCID: https://orcid.org/0009-0005-3933-0597)
- Francesca Madia (ORCID: https://orcid.org/0000-0002-7807-1322)
- Federico Zara (ORCID: https://orcid.org/0000-0001-9744-5222)
- Serena Cappato (ORCID: https://orcid.org/0000-0002-1745-5410)
- Marina Pedemonte (ORCID: https://orcid.org/0000-0001-8410-6918)
- Chiara Fiorillo (ORCID: https://orcid.org/0000-0001-9027-343X)
- Noemi Brolatti
- Francesca Faravelli
- Claudio Bruno (ORCID: https://orcid.org/0000-0002-3426-2901)
- Ludovica Menta
- Michela Bellardita
Institutions
- Istituto Giannina Gaslini (IT)
- University of Genoa (IT)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-08-01
- DOI
- https://doi.org/10.1002/mgg3.70126
- Primary Topic
- Erythrocyte Function and Pathophysiology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute