PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review

Tomomi Yamaguchi, Kyoko Takano, Yuji Inaba, Manami Morikawa, Mitsuo Motobayashi, Rie Kawamura, Keiko Wakui, Eriko Nishi, Shin ichi Hirabayashi, Yoshimitsu Fukushima, Hiroyuki Kato, Jun Takahashi, Tomoki Kosho

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)


PIEZO2 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-of-function mutations in PIEZO2 (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-year-old girl presenting with congenital multiple contractures, progressive severe scoliosis, prenatal-onset growth impairment, motor developmental delay with hypotonia and myopathy-like 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 PIEZO2 (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-based comprehensive molecular screening and extensive neurophysiological examination could be valuable for diagnosis of the disorder.

Original languageEnglish
Pages (from-to)948-957
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Issue number6
Publication statusPublished - 06-2019
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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