{"entity": "publication", "iuid": "461b01d874124d3c9963a3c1537e2201", "timestamp": "2026-09-23T21:57:26.494Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/461b01d874124d3c9963a3c1537e2201.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/461b01d874124d3c9963a3c1537e2201"}}, "title": "Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.", "authors": [{"family": "Pettersson", "given": "Maria", "initials": "M", "orcid": "0000-0003-3120-1625", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/12ccdc228a31454b8d43136e9708350b.json"}}, {"family": "Vaz", "given": "Raquel", "initials": "R"}, {"family": "Hammarsj\u00f6", "given": "Anna", "initials": "A"}, {"family": "Eisfeldt", "given": "Jesper", "initials": "J", "orcid": "0000-0003-3716-4917", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/83d05cbf798f4b48800dc89b57427cf2.json"}}, {"family": "Carvalho", "given": "Claudia M B", "initials": "CMB", "orcid": "0000-0002-2090-298X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/957f6ddd88b24cf3aee597cf2095ec56.json"}}, {"family": "Hofmeister", "given": "Wolfgang", "initials": "W", "orcid": "0000-0002-6306-9262", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dcb0e7b621694cc3bed0505b0cddcaf4.json"}}, {"family": "Tham", "given": "Emma", "initials": "E"}, {"family": "Horemuzova", "given": "Eva", "initials": "E"}, {"family": "Voss", "given": "Ulrika", "initials": "U"}, {"family": "Nishimura", "given": "Gen", "initials": "G"}, {"family": "Klintberg", "given": "Bo", "initials": "B"}, {"family": "Nordgren", "given": "Ann", "initials": "A"}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Grigelioniene", "given": "Giedre", "initials": "G"}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}}], "type": "case reports", "published": "2018-10-00", "journal": {"title": "Hum. Mutat.", "issn": "1098-1004", "volume": "39", "issue": "10", "pages": "1456-1467", "issn-l": "1059-7794"}, "abstract": "Skeletal dysplasias are a diverse group of rare Mendelian disorders with clinical and genetic heterogeneity. Here, we used targeted copy number variant (CNV) screening and identified intragenic exonic duplications, formed through Alu-Alu fusion events, in two individuals with skeletal dysplasia and negative exome sequencing results. First, we detected a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD) (MIM# 208500). Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples. Complementary zebrafish studies suggested that loss of full-length IFT81 protein but expression of a shorter form of IFT81 protein affects the phenotype while being compatible with life. Second, a de novo tandem duplication of exons 2 to 5 in MATN3 was identified in a girl with multiple epiphyseal dysplasia (MED) type 5 (MIM# 607078). Our data highlights the importance of detection and careful characterization of intragenic duplication CNVs, presenting them as a novel and very rare genetic mechanism in IFT81-related Jeune syndrome and MATN3-related MED.", "doi": "10.1002/humu.23605", "pmid": "30080953", "labels": [], "xrefs": [], "notes": [], "created": "2026-09-23T11:55:46.143Z", "modified": "2026-09-23T11:55:46.213Z"}