{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T17:38:42Z","timestamp":1789753122392,"version":"4.0.1"},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,3,11]],"date-time":"2021-03-11T00:00:00Z","timestamp":1615420800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100007504","name":"Istanbul Teknik \u00dcniversitesi","doi-asserted-by":"publisher","award":["Project 2021\u201042537"],"award-info":[{"award-number":["Project 2021\u201042537"]}],"id":[{"id":"10.13039\/501100007504","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fraser syndrome is characterized by cryptophthalmos, syndactyly and other autopod defects, and abnormalities of the respiratory and urogenital tracts. Biallelic variants in <jats:italic>GRIP1<\/jats:italic> can cause Fraser syndrome 3 (FRASRS3), and five unrelated FRASRS3 cases have been reported to date. Four cases are fetuses with homozygous truncating variants. The remaining case is an almost 9\u2010year\u2010old Turkish girl compound heterozygous for a truncation variant and a possibly frame\u2010shift intragenic deletion. We present a 15.5\u2010year old Pakistani boy with homozygous truncating variant c.1774C&gt;T (p.Gln592Ter). Of the hallmarks of the disease, the boy has cryptophthalmia, midface retrusion, very low anterior hairline, hair growth on temples extending to the supraorbital line and also on alae nasi, agenesis of right kidney, and cutaneous syndactyly of fingers and toes but no symptoms in any other organs, including lungs, anorectal system, genitalia, and umbilical system. This case is the oldest known individual with FRASRS3, and our findings show that a homozygous <jats:italic>GRIP1<\/jats:italic> truncating variant can manifest with a non\u2010lethal phenotype than in the reported cases with such variants, expanding the phenotypic and mutational spectrum of <jats:italic>GRIP1<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.62163","type":"journal-article","created":{"date-parts":[[2021,3,12]],"date-time":"2021-03-12T06:32:05Z","timestamp":1615530725000},"page":"1858-1863","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in <i>GRIP1<\/i>"],"prefix":"10.1002","volume":"185","author":[{"given":"Mine","family":"Koprulu","sequence":"first","affiliation":[{"name":"Department of Molecular Biology and Genetics MOBGAM, Istanbul Technical University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aneeta","family":"Kumare","sequence":"additional","affiliation":[{"name":"Human Genetics Program, Department of Zoology, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anisa","family":"Bibi","sequence":"additional","affiliation":[{"name":"Human Genetics Program, Department of Zoology, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5563-9053","authenticated-orcid":false,"given":"Sajid","family":"Malik","sequence":"additional","affiliation":[{"name":"Human Genetics Program, Department of Zoology, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad 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Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,3,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/15227950500405353"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2015.09.048"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2013101103"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61610"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490206"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(98)01208-0"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1016"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36343"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31951"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100590"}],"container-title":["American 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