A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect.

摘要: PIEZO2 mutations have been described in dominant arthrogryposis, but homozygous of may also be responsible for more complex clinical patterns, associating distal neonatal respiratory insufficiency, scoliosis and proprioceptive impairment. We report here two sisters presenting with these genetic features. They had a similar phenotype, severe hypotonia distress at birth, delayed acquisition motor milestones need surgery. Hypotonia alteration proprioception were the forefront examination both, along areflexia, hyperlaxity, cutis laxa, discrete facial dysmorphy. Electrophysiological studies, including electroneuromyography sensory evoked potentials, showed mild axonopathy without any myopathic features, revealed peripheral proximal lemniscal defect. Creatine kinase, muscular MRI biopsy normal, as well cerebral neurometabolic biological explorations. moderate restrictive syndrome on function tests cardiac was normal. Molecular studies performed panel genes involved arthrogryposis disclosed nonsense c.3241C > T (p.Arg1051*) mutation gene, which present heterozygous state their mother's DNA. This new accordance phenotype combining scoliosis, hyperlaxity