This website provides information on patients with mutations in the PIEZO2 gene, including clinical data, molecular data, management and research options.

There are several multisystem disorders that are caused by mutations in the PIEZO2 gene, depending on the type of mutation and on whether the mutations are monoallelic (dominant) or biallelic (recessive). The PIEZO2 gene encodes a large transmembrane protein important for somatosensory mechanotransduction.

Certain heterozygous PIEZO2 mutations with gain of function properties (increased channel activity) lead to autosomal-dominant distal arthrogryposis type 3 (Gordon syndrome; OMIM 114300) or type 5 (oculomelic amyoplasia; OMIM 108145), two neuromuscular disorders with arthrogryposis multiplex congenital (AMC) and additional features but primarily normal cognitive development. Heterozygous PIEZO2 mutations have also been found in very few patients with Marden-Walker syndrome (MWKS; OMIM 248700), a multiple congenital malformation syndrome with variable degrees of intellectual disability. Other homozygous or compound heterozygous PIEZO2 mutations with loss of function properties cause autosomal-recessive Distal Arthrogryposis with Impaired Proprioception and Touch (DAIPT; OMIM 617146). This disorder comprises neonatal respiratory insufficiency, predominantly distal arthrogryposis multiplex congenita (AMC) and sensory ataxia as a result of impaired proprioception with normal cognitive development. Not all individuals with a mutation in the PIEZO2 gene have all the features of the respective disorder.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the PIEZO2 gene.

Brunhilde Wirth, PhD; Director of, Institute of Human Genetics, University of Cologne, Cologne, Germany, brunhilde.wirth@uk-koeln.de

Raoul Heller, MD, PhD; Clinical Geneticist, GHSNZ – Northern Hub, ADHB, Auckland City Hospital, Auckland, New Zealand, raoulh@adhb.govt.nz

Mert Karakaya, MD, Clinical Scientist, Institute of Human Genetics, University Hospital Cologne, Cologne, Germany, mert.karakaya@uk-koeln.de

Andrea Delle Vedove, MD, PhD-Cadidate, Institute of Human Genetics, University Hospital Cologne, Cologne, Germany, andrea.delle-vedove@uk-koeln.de

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