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Article

Familial Gordon syndrome associated with a PIEZO2 mutation.

American journal of medical genetics. Part A - 1 Jan 2017

Alisch Franz, Weichert Alexander, Kalache Karim, Paradiso Viola, Longardt Ann Carolin, Dame Christof, Hoffmann Katrin, Horn Denise

Abstract excerpt

Gordon syndrome or distal arthrogryposis type 3 is a rare autosomal dominant disorder characterized by contractures of upper and lower limbs. It is distinguishable from other forms of distal arthrogryposis by cleft palate and short stature. Recently, Gordon syndrome has been associated to heterozygous mutations in the piezo-type mechanosensitive ion channel component 2 gene (PIEZO2). Different mutations of this...

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Source

Identifiers

PMID: 27714920
DOI: 10.1002/ajmg.a.37997

Genes

PIEZO2

Variants

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.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Familial Gordon syndrome associated with a PIEZO2 mutation.PMID 27714920Read ↗

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

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

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

Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.Semantic proximity Read ↗

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

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

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 ↗

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

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

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