期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 179, 期 6, 页码 948-957出版社
WILEY
DOI: 10.1002/ajmg.a.61142
关键词
areflexia; arthrogryposis; decreased senses; neurophysiological examination; next-generation sequencing (NGS); PIEZO2 deficiency
资金
- Japan Agency for Medical Research and Development
- Japan Foundation for Pediatric Research
- Ministry of Health, Labour and Welfare [Research on Intractable Diseases/073]
- Japan Medical Association
- Ministry of Education, Culture, Sports, Science and Technology of Japan [25460405]
- Grants-in-Aid for Scientific Research [25460405] Funding Source: KAKEN
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.
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