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Article

A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.

American journal of medical genetics. Part A - 1 May 2015

Okubo Mariko, Fujita Atsushi, Saito Yoshiaki, Komaki Hirofumi, Ishiyama Akihiko, Takeshita Eri, Kojima Emiko, Koichihara Reiko, Saito Takashi, Nakagawa Eiji, Sugai Kenji, Yamazaki Hiroko, Kusaka Kei, Tanaka Hiroshi, Miyake Noriko, Matsumoto Naomichi, Sasaki Masayuki

Abstract excerpt

Distal arthrogryposis (DA) encompasses a heterogeneous group of hereditary disorders with multiple congenital contractures predominant in the distal extremities. A total of 10 subtypes are proposed based on the pattern of contractures and association with extraarticular symptoms. DA5 is defined as a subtype with ptosis/oculomotor limitation. However, affected individuals have a variety of non-ocular features as...

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Source

Identifiers

PMID: 25712306
DOI: 10.1002/ajmg.a.36881

Genes

PIEZO2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.PMID 25712306Read ↗

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 ↗

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 ↗

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

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

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

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

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

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

Arthrogryposis as a neuromuscular phenotype: lessons from PIEZO2 loss-of-function.Semantic 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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