{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T02:04:05Z","timestamp":1787623445532,"version":"build-2736575974"},"reference-count":4,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Distal arthrogryposis with impaired proprioception and touch (DAIPT) is an autosomal recessive neurogenetic disorder caused by homozygous pathogenic variants in the PIEZO2 gene. Here we present four Omani families with multiple affected members with DAIPT. The genetic diagnosis was established by whole exome sequencing and we identified a previously unreported homozygous missense variant PIEZO2: c.1591T\u2009&gt;\u2009C, P.(Trp531Arg) in one family with two affected members. All patients showed clinical manifestation shortly after birth including transient respiratory insufficiency, significant hypotonia, and gross motor developmental delay with preserved cognitive function. The skeletal manifestation including arthrogryposis is more pronounced with age as we saw in our older patient. This case report will be of importance for physicians and genetic counsellors for faster diagnosis and for offering carrier testing for at-risk family members as part of the premarital testing program, which could help in reducing the burden of this disorder.<\/jats:p>","DOI":"10.1055\/s-0043-1764127","type":"journal-article","created":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T18:55:20Z","timestamp":1677264920000},"page":"175-180","source":"Crossref","is-referenced-by-count":1,"title":["Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in PIEZO2 Gene in Omani Patients and a Genotype\u2013Phenotype Review from a Single-Center Experience"],"prefix":"10.53391","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6319-1620","authenticated-orcid":false,"given":"Aaisha","family":"Al Balushi","sequence":"additional","affiliation":[{"name":"Division of Clinical and Biochemical Genetics, Child Health Department, Royal Hospital, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariya","family":"Al Hinai","sequence":"additional","affiliation":[{"name":"National Genetic Center, Royal Hospital, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alya","family":"Al Hosni","sequence":"additional","affiliation":[{"name":"National Genetic Center, Royal Hospital, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Al Amrani","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Sultan Qaboos University Hospital, Seeb, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwaq","family":"Al Maimani","sequence":"additional","affiliation":[{"name":"National Genetic Center, Royal Hospital, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nabil","family":"Al Maki","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Child Health Department, Royal Hospital, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Al Hashmi","sequence":"additional","affiliation":[{"name":"Division of Clinical and Biochemical Genetics, Child Health Department, Royal Hospital, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2023,2,24]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1126\/science.1193270","article-title":"Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels","volume":"330","author":"B Coste","year":"2010","journal-title":"Science"},{"issue":"06","key":"ref2","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1159\/000494451","article-title":"Distal arthrogryposis with impaired proprioception and touch: description of an early phenotype in a boy with compound heterozygosity of PIEZO2 mutations and review of the literature","volume":"9","author":"J Behunova","year":"2019","journal-title":"Mol Syndromol"},{"issue":"05","key":"ref3","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1016\/j.ajhg.2016.09.019","article-title":"Biallelic loss of proprioception-related PIEZO2 causes muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis","volume":"99","author":"A Delle Vedove","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"05","key":"ref4","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1016\/j.ajhg.2014.03.015","article-title":"Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5","volume":"94","author":"M J McMillin","year":"2014","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0043-1764127.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:46:07Z","timestamp":1758138367000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0043-1764127"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,24]]},"references-count":4,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2024,7,30]]},"published-print":{"date-parts":[[2024,9]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0043-1764127","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,24]]}}}