{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T02:16:54Z","timestamp":1783649814946,"version":"3.55.0"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,10,7]],"date-time":"2016-10-07T00:00:00Z","timestamp":1475798400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>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\u2010type mechanosensitive ion channel component 2 gene (PIEZO2). Different mutations of this gene also cause distal arthrogryposis type 5 and Marden\u2013Walker syndrome. Dysfunction of this ion channel provides pleiotropic effects on joints, ocular muscles, and bone development. Here, we present a family with three affected individuals exhibiting multiple contractures (metacarpo\u2010phalangeal and interphalangeal joints as well as elbow, shoulder, knee, and ankle joints), clubfeet, short stature, bifid uvula\/cleft palate, and a distinct facial phenotype including ptosis. In addition, mild intellectual disability and delay in psychomotor development are obvious. The multigenerational phenotypic spectrum of Gordon syndrome is present in the 37\u2010year\u2010old father, his 4\u2010year\u2010old son and a male neonate showing typical signs of arthrogryposis in the prenatal ultrasound examination already seen at 13 week of gestation. In all affected family members, we identified the PIEZO2 mutation c.8057G&gt;A (p.Arg2686His) by Sanger sequencing. Our analysis indicated that mild delay in psychomotor development and intellectual disability could be part of the phenotypic spectrum of Gordon syndrome. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37997","type":"journal-article","created":{"date-parts":[[2016,10,13]],"date-time":"2016-10-13T02:50:03Z","timestamp":1476327003000},"page":"254-259","source":"Crossref","is-referenced-by-count":38,"title":["Familial Gordon syndrome associated with a <i>PIEZO2<\/i> mutation"],"prefix":"10.1002","volume":"173","author":[{"given":"Franz","family":"Alisch","sequence":"first","affiliation":[{"name":"Institut f\u00fcr Medizinische Genetik und Humangenetik Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Weichert","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Geburtsmedizin Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karim","family":"Kalache","sequence":"additional","affiliation":[{"name":"Sidra Medical and Research Center Obstetrics and Gynecology Department Doha Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viola","family":"Paradiso","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik Martin\u2010Luther Universit\u00e4t Halle Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann Carolin","family":"Longardt","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Neonatologie Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christof","family":"Dame","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Neonatologie Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Hoffmann","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik Martin\u2010Luther Universit\u00e4t Halle Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Horn","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Medizinische Genetik und Humangenetik Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,10,7]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"935","article-title":"[Treatment of chewing, swallowing and speech defects in handicapped children with Castillo\u2010Morales orofacial regulator therapy: Advice for pediatricians and dentists]","volume":"75","author":"Castillo\u2010Morales R","year":"1985","journal-title":"Zahnarztl Mitt"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1221400110"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.121148"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.6.3.266"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.03.015"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36881"},{"key":"e_1_2_7_8_1","unstructured":"PiraniS OuterbridgeH SawatzkyB StothersK.1999. 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