{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T02:05:47Z","timestamp":1787623547434,"version":"build-2736575974"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,4,2]],"date-time":"2019-04-02T00:00:00Z","timestamp":1554163200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["Program for an Integrated Database of Clinical and"],"award-info":[{"award-number":["Program for an Integrated Database of Clinical and"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["Practical Research Project for Rare\/Intractable Di"],"award-info":[{"award-number":["Practical Research Project for Rare\/Intractable Di"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["Research on Intractable Diseases\/073"],"award-info":[{"award-number":["Research on Intractable Diseases\/073"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p><jats:italic>PIEZO2<\/jats:italic> encodes a mechanically activated cation channel, which is abundantly expressed in dorsal root ganglion neuron and sensory endings of proprioceptors required for light touch sensation and proprioception in mice. Biallelic loss\u2010of\u2010function mutations in <jats:italic>PIEZO2<\/jats:italic> (i.e., PIEZO2 deficiency) were recently found to cause an arthrogryposis syndrome. Sixteen patients from eight families have been reported to date. Herein we report a new case, including detailed clinical characteristics and courses as well as comprehensive neurological features. The patient was a 12\u2010year\u2010old girl presenting with congenital multiple contractures, progressive severe scoliosis, prenatal\u2010onset growth impairment, motor developmental delay with hypotonia and myopathy\u2010like muscle pathology, mild facial features, and normal intelligence. Her neurological features included areflexia, impaired proprioception, and decreased senses. Neurophysiological examination revealed decreased amplitude of sensory nerve action potentials, absent H reflex, and prolongation of central conduction times. Clinical exome sequencing revealed a novel homozygous frameshift mutation in <jats:italic>PIEZO2<\/jats:italic> (NM_022068: c.4171_4174delGTCA: p.Val1391Lysfs*39) with no detectable mRNA expression of the gene. PIEZO2 deficiency represents a clinical entity involving characteristic neuromuscular abnormalities and physical features. Next generation sequencing\u2010based comprehensive molecular screening and extensive neurophysiological examination could be valuable for diagnosis of the disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.61142","type":"journal-article","created":{"date-parts":[[2019,4,3]],"date-time":"2019-04-03T04:46:10Z","timestamp":1554266770000},"page":"948-957","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review"],"prefix":"10.1002","volume":"179","author":[{"given":"Tomomi","family":"Yamaguchi","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Center for Medical Genetics Shinshu University Hospital  Matsumoto 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