Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

Beyond distal arthrogryposis: refining the phenotypic landscape of <i>PIEZO2</i> -related disorders

22 Jul 2026

Abstract excerpt

Piezo2 channels are mechanosensors expressed in dorsal root ganglia and Merkel cells, and involved in proprioception and touch sensation. PIEZO2 pathogenic variants cause rare autosomal dominant and recessive disorders. Dominant forms include distal arthrogryposis type 3, 5, and Marden-Walker syndrome, whereas the recessive form corresponds to distal arthrogryposis with impaired proprioception and touch (DAIPT)....

Topics

Join the communities discussing this publication.

Blood properties and coagulation
Erythrocyte Function and Pathophysiology
Ion channel regulation and function

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 42496149
DOI: 10.1093/brain/awag249

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Beyond distal arthrogryposis: refining the phenotypic landscape of <i>PIEZO2</i> -related disordersPMID 42496149Read ↗

Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the LiteratureSemantic proximity Read ↗

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature reviewSemantic proximity Read ↗

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.Semantic proximity Read ↗

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.Semantic proximity Read ↗

A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.Semantic proximity Read ↗

Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene.Semantic proximity Read ↗

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.Semantic proximity Read ↗

Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contracturesSemantic proximity Read ↗

Familial Gordon syndrome associated with a PIEZO2 mutation.Semantic proximity Read ↗

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.Semantic proximity Read ↗

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.Semantic proximity Read ↗

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.