{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T14:28:36Z","timestamp":1790778516096,"version":"4.1.0"},"reference-count":50,"publisher":"Oxford University Press (OUP)","issue":"13","license":[{"start":{"date-parts":[[2020,6,12]],"date-time":"2020-06-12T00:00:00Z","timestamp":1591920000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100001711","name":"Swiss National Science Foundation","doi-asserted-by":"publisher","award":["#176097"],"award-info":[{"award-number":["#176097"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Life Science of the University of Lausanne"},{"name":"Fondation Guillaume-Gentil in Lausanne"},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100015822","name":"Fondazione Roma","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100015822","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Spanish Ministry of Health","award":["06\/07\/0036"],"award-info":[{"award-number":["06\/07\/0036"]}]},{"name":"IIS-FJD Biobank","award":["PT13\/0010\/0012"],"award-info":[{"award-number":["PT13\/0010\/0012"]}]},{"name":"FIS","award":["PI16\/00425"],"award-info":[{"award-number":["PI16\/00425"]}]},{"name":"FIS","award":["B2017\/BMD-3721"],"award-info":[{"award-number":["B2017\/BMD-3721"]}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Spanish National Organization of the Blind"},{"name":"Spanish Fighting Blindness Foundation"},{"name":"Ramon Areces Foundation"},{"name":"ISCII Miguel Servet Program","award":["CPII17_00006"],"award-info":[{"award-number":["CPII17_00006"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,8,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>We investigated the genetic origin of the phenotype displayed by three children from two unrelated Italian families, presenting with a previously unrecognized autosomal recessive disorder that included a severe form of spondylo-epiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis (SHILCA), as well as some brain anomalies that were visible at the MRI. Autozygome-based analysis showed that these children shared a 4.76\u00a0Mb region of homozygosity on chromosome 1, with an identical haplotype. Nonetheless, whole-exome sequencing failed to identify any shared rare coding variants, in this region or elsewhere. We then determined the transcriptome of patients\u2019 fibroblasts by RNA sequencing, followed by additional whole-genome sequencing experiments. Gene expression analysis revealed a 4-fold downregulation of the gene NMNAT1, residing indeed in the shared autozygous interval. Short- and long-read whole-genome sequencing highlighted a duplication involving 2 out of the 5 exons of NMNAT1 main isoform (NM_022787.3), leading to the production of aberrant mRNAs. Pathogenic variants in NMNAT1 have been previously shown to cause non-syndromic Leber congenital amaurosis (LCA). However, no patient with null biallelic mutations has ever been described, and murine Nmnat1 knockouts show embryonic lethality, indicating that complete absence of NMNAT1 activity is probably not compatible with life. The rearrangement found in our cases, presumably causing a strong but not complete reduction of enzymatic activity, may therefore result in an intermediate syndromic phenotype with respect to LCA and lethality.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa112","type":"journal-article","created":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T11:11:42Z","timestamp":1591701102000},"page":"2250-2260","source":"Crossref","is-referenced-by-count":22,"title":["An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs"],"prefix":"10.1093","volume":"29","author":[{"given":"Nicola","family":"Bedoni","sequence":"first","affiliation":[{"name":"Department of Computational Biology, University of Lausanne, 1011 Lausanne, Switzerland"},{"name":"Division of Genetic Medicine, Lausanne University Hospital, 1011 Lausanne, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Quinodoz","sequence":"additional","affiliation":[{"name":"Department of Computational Biology, University of Lausanne, 1011 Lausanne, Switzerland"},{"name":"Department of Genetics and Genome Biology, University of LE1 7RH Leicester, Leicester, UK"},{"name":"Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland"},{"name":"Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Pinelli","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy"},{"name":"Department of Translational Medicine, Section of Pediatrics, Federico II University, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerarda","family":"Cappuccio","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy"},{"name":"Department of Translational Medicine, Section of Pediatrics, Federico II University, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalaura","family":"Torella","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy"},{"name":"Medical Genetics, Department of Precision Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Nigro","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy"},{"name":"Medical Genetics, Department of Precision Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Testa","sequence":"additional","affiliation":[{"name":"Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania \u201cLuigi Vanvitelli\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Simonelli","sequence":"additional","affiliation":[{"name":"Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania \u201cLuigi Vanvitelli\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"TUDP (Telethon Undiagnosed Disease Program)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Corton","sequence":"additional","affiliation":[{"name":"Department of Genetics, Instituto de Investigaci\u00f3n Sanitaria \u2013 Fundaci\u00f3n Jim\u00e9nez D\u00edaz, University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanna","family":"Lualdi","sequence":"additional","affiliation":[{"name":"Laboratorio di Genetica Molecolare e Biobanche, Istituto G. Gaslini, 16147 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Lanza","sequence":"additional","affiliation":[{"name":"Laboratorio di Genetica Molecolare e Biobanche, Istituto G. Gaslini, 16147 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Morana","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Ayuso","sequence":"additional","affiliation":[{"name":"Department of Genetics, Instituto de Investigaci\u00f3n Sanitaria \u2013 Fundaci\u00f3n Jim\u00e9nez D\u00edaz, University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Di Rocco","sequence":"additional","affiliation":[{"name":"Laboratorio di Genetica Molecolare e Biobanche, Istituto G. Gaslini, 16147 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirella","family":"Filocamo","sequence":"additional","affiliation":[{"name":"Laboratorio di Genetica Molecolare e Biobanche, Istituto G. Gaslini, 16147 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandro","family":"Banfi","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy"},{"name":"Medical Genetics, Department of Precision Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Brunetti-Pierri","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy"},{"name":"Department of Translational Medicine, Section of Pediatrics, Federico II University, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Superti-Furga","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Lausanne University Hospital, 1011 Lausanne, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Rivolta","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genome Biology, University of LE1 7RH Leicester, Leicester, UK"},{"name":"Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland"},{"name":"Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,6,12]]},"reference":[{"key":"2020080403104206800_ref1","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1080\/13816810490514261","article-title":"Leber congenital amaurosis: a genetic paradigm","volume":"25","author":"Allikmets","year":"2004","journal-title":"Ophthalmic Genet."},{"key":"2020080403104206800_ref2","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/j.ajo.2007.08.022","article-title":"Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson memorial lecture","volume":"144","author":"Stone","year":"2007","journal-title":"Am J. 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