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Novel Pathogenic Variant in PIEZO2 in a Korean Patient with Distal Arthrogryposis

 Taewon Kim  ;  Seung-Ah Lee  ;  Won Ah Choi  ;  Seong-Woong Kang  ;  Young-Chul Choi  ;  Hyung Jun Park 
 Journal of Electrodiagnosis and Neuromuscular Diseases, Vol.25(1) : 30-33, 2023-04 
Journal Title
Journal of Electrodiagnosis and Neuromuscular Diseases
Issue Date
Alterations in PIEZO2 can result in distal arthrogryposis, which is characterized by non-progressive contracture in two or more areas of the body prior to birth. Here, we present a 29-year-old man born with multiple joint contractures and cleft palate. He showed short stature, low-set ears, macrotia, hearing impairment, micrognathia, a triangular face, blepharophimosis, deep-set eyes, high arched eyebrows, decreased facial expressions, retrognathia, arachnodactyly, absent phalangeal crease, shortening of the first and fifth toes, short stature, pectus excavatum, epicanthus, bilateral ptosis, and ophthalmoplegia. He also complained of dyspnea and severe kyphoscoliosis. Pulmonary function tests showed a severe restrictive pattern. An electrodiagnostic study did not reveal any neurogenic or myogenic features. Next-generation sequencing revealed a novel de novo heterozygous pathogenic variant in PIEZO2 (c.7251G>T; p.Trp2417Cys). Our study is the first report of a pathogenic variant in PIEZO2 in a Korean patient with distal arthrogryposis.
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
Yonsei Authors
Kang, Seong Woong(강성웅) ORCID logo https://orcid.org/0000-0002-7279-3893
Park, Hyung Jun(박형준)
Lee, Seung-Ah(이승아)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
Choi, Won Ah(최원아) ORCID logo https://orcid.org/0000-0003-0403-8869
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