J Electrodiagn Neuromuscul Dis.  2023 Apr;25(1):30-33. 10.18214/jend.2022.00171.

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

• Kim T
• Lee SA
• Choi WA
• Kang SW
• Choi YC
• Park HJ

• KMID: 2542891
• DOI: http://doi.org/10.18214/jend.2022.00171

Abstract

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.

Keyword

Arthrogryposis; High-throughput nucleotide sequencing; PIEZO2