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Article

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

American journal of human genetics - 3 Nov 2016

Delle Vedove Andrea, Storbeck Markus, Heller Raoul, Hölker Irmgard, Hebbar Malavika, Shukla Anju, Magnusson Olafur, Cirak Sebahattin, Girisha Katta M, O'Driscoll Mary, Loeys Bart, Wirth Brunhilde

Abstract excerpt

We report ten individuals of four independent consanguineous families from Turkey, India, Libya, and Pakistan with a variable clinical phenotype that comprises arthrogryposis, spontaneously resolving respiratory insufficiency at birth, muscular atrophy predominantly of the distal lower limbs, scoliosis, and mild distal sensory involvement. Using whole-exome sequencing, SNPchip-based linkage analysis, DNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mechanotransduction, Cellular

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Source

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Identifiers

PMID: 27843126
DOI: 10.1016/j.ajhg.2016.09.019
PMCID: PMC5097934

Genes

PIEZO2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.PMID 27843126Read ↗

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 ↗

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

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 ↗

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

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

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

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

PIEZO2 ion channels in proprioception.Semantic proximity Read ↗

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