{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T17:06:21Z","timestamp":1780938381123,"version":"3.54.1"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,22]],"date-time":"2017-03-22T00:00:00Z","timestamp":1490140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>PTRH2<\/jats:italic> is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl\u2010tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the <jats:italic>PTRH2<\/jats:italic> gene were reported. Global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, and sensorineural hearing loss were present in all patients, while facial dysmorphism with widely spaced eyes, exotropia, thin upper lip, proximally placed thumbs, and deformities of the fingers and toes were present in some individuals. Here, we report a new family with three siblings affected by sensorineural hearing loss and peripheral neuropathy. Autozygosity mapping followed by exome sequencing identified a previously reported homozygous missense mutation in <jats:italic>PTRH2<\/jats:italic> (c.254A&gt;C; p.(Gln85Pro)). Sanger sequencing confirmed that the variant segregated with the phenotype. In contrast to the previously reported patient, the affected siblings had normal intelligence, milder microcephaly, delayed puberty, myopia, and moderate insensitivity to pain. Our findings expand the clinical phenotype and further demonstrate the clinical heterogeneity related to PTRH2 variants.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38140","type":"journal-article","created":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T05:24:33Z","timestamp":1490246673000},"page":"1051-1055","source":"Crossref","is-referenced-by-count":16,"title":["Homozygous mutation in <i>PTRH2<\/i> gene causes progressive sensorineural deafness and peripheral neuropathy"],"prefix":"10.1002","volume":"173","author":[{"given":"Rajech","family":"Sharkia","sequence":"first","affiliation":[{"name":"The Triangle Regional Research and Development Center Kfar Qari' Israel"},{"name":"Beit\u2010Berl Academic College Beit\u2010Berl Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stavit A.","family":"Shalev","sequence":"additional","affiliation":[{"name":"Genetic Institute Emek Medical Center Afula Israel"},{"name":"Rappaport Faculty of Medicine Technion\u2014Israel Institute of Technology Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelnaser","family":"Zalan","sequence":"additional","affiliation":[{"name":"The Triangle Regional Research and Development Center Kfar Qari' Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milit","family":"Marom\u2010David","sequence":"additional","affiliation":[{"name":"Faculty of Life Sciences Department of Biochemistry and Molecular Biology Tel\u2010Aviv University Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan","family":"Watemberg","sequence":"additional","affiliation":[{"name":"Sakler Faculty of Medicine Child neurology Unit Mier Medical Cener Tel\u2010Aviv University Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill E.","family":"Urquhart","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine Manchester Academic Health Sciences Centre St. Mary's Hospital Manchester UK"},{"name":"Institute of Human Development Manchester Centre for Genomic Medicine University of Manchester Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah B.","family":"Daly","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine Manchester Academic Health Sciences Centre St. Mary's Hospital Manchester UK"},{"name":"Institute of Human Development Manchester Centre for Genomic Medicine University of Manchester Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjeev S.","family":"Bhaskar","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine Manchester Academic Health Sciences Centre St. Mary's Hospital Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon G.","family":"Williams","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine Manchester Academic Health Sciences Centre St. Mary's Hospital Manchester UK"},{"name":"Institute of Human Development Manchester Centre for Genomic Medicine University of Manchester Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William G.","family":"Newman","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine Manchester Academic Health Sciences Centre St. Mary's Hospital Manchester UK"},{"name":"Institute of Human Development Manchester Centre for Genomic Medicine University of Manchester Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronen","family":"Spiegel","sequence":"additional","affiliation":[{"name":"Genetic Institute Emek Medical Center Afula Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdussalam","family":"Azem","sequence":"additional","affiliation":[{"name":"Faculty of Life Sciences Department of Biochemistry and Molecular Biology Tel\u2010Aviv University Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orly","family":"Elpeleg","sequence":"additional","affiliation":[{"name":"Monique and Jacques Roboh Department of Genetic Research Hadassah Hebrew University Medical Center Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Mahajnah","sequence":"additional","affiliation":[{"name":"Rappaport Faculty of Medicine Technion\u2014Israel Institute of Technology Haifa Israel"},{"name":"Child Neurology and Development Center Hillel\u2010Yaffe Medical Center Hadera 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