{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:47:44Z","timestamp":1787028464835,"version":"build-2736575974"},"reference-count":50,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2021,11,24]],"date-time":"2021-11-24T00:00:00Z","timestamp":1637712000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI17\/00164"],"award-info":[{"award-number":["PI17\/00164"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI20\/00851"],"award-info":[{"award-number":["PI20\/00851"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["IIS-FJD Biobank PT13\/0010\/0012"],"award-info":[{"award-number":["IIS-FJD Biobank PT13\/0010\/0012"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["FI18\/00123"],"award-info":[{"award-number":["FI18\/00123"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["CP16\/00116"],"award-info":[{"award-number":["CP16\/00116"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["CPII17\/00006"],"award-info":[{"award-number":["CPII17\/00006"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Centre for Biomedical Network Research on Rare Diseases","award":["06\/07\/0036"],"award-info":[{"award-number":["06\/07\/0036"]}]},{"DOI":"10.13039\/100009134","name":"Consejer\u00eda de Econom\u00eda, Empleo y Competitividad Comunidad de Madrid","doi-asserted-by":"publisher","award":["B2017\/BMD-3721"],"award-info":[{"award-number":["B2017\/BMD-3721"]}],"id":[{"id":"10.13039\/100009134","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009134","name":"Consejer\u00eda de Econom\u00eda, Empleo y Competitividad Comunidad de Madrid","doi-asserted-by":"publisher","award":["2019-T2\/BMD-13714"],"award-info":[{"award-number":["2019-T2\/BMD-13714"]}],"id":[{"id":"10.13039\/100009134","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009134","name":"Consejer\u00eda de Econom\u00eda, Empleo y Competitividad Comunidad de Madrid","doi-asserted-by":"publisher","award":["PEJ-2020-AI\/BMD-18610"],"award-info":[{"award-number":["PEJ-2020-AI\/BMD-18610"]}],"id":[{"id":"10.13039\/100009134","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008054","name":"Fundaci\u00f3n Ram\u00f3n Areces","doi-asserted-by":"publisher","award":["Proyecto Investigacion"],"award-info":[{"award-number":["Proyecto Investigacion"]}],"id":[{"id":"10.13039\/100008054","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fundaci\u00f3n ONCE","award":["Ayuda Investigaci\u00f3n 2020"],"award-info":[{"award-number":["Ayuda Investigaci\u00f3n 2020"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Inversions are structural variants that are generally balanced. However, they could lead to gene disruptions or have positional effects leading to diseases. Mutations in the NHS gene cause Nance-Horan syndrome, an X-linked disorder characterised by congenital cataracts and dental anomalies. Here, we aimed to characterise a balanced pericentric inversion X(p22q27), maternally inherited, in a child with syndromic bilateral cataracts by breakpoint mapping using whole-genome sequencing (WGS). 30\u00d7 Illumina paired-end WGS was performed in the proband, and breakpoints were confirmed by Sanger sequencing. EdU assays and FISH analysis were used to assess skewed X-inactivation patterns. RNA expression of involved genes in the breakpoint boundaries was evaluated by droplet-digital PCR. We defined the breakpoint position of the inversion at Xp22.13, with a 15 bp deletion, disrupting the unusually large intron 1 of the canonical NHS isoform, and also perturbing topologically-associated domains (TADs). Moreover, a microhomology region of 5 bp was found on both sides. RNA analysis confirmed null and reduced NHS expression in the proband and his unaffected mother, respectively. In conclusion, we report the first chromosomal inversion disrupting NHS, fine-mapped by WGS. Our data expand the clinical spectrum and the pathogenic mechanisms underlying the NHS defects.<\/jats:p>","DOI":"10.3390\/ijms222312713","type":"journal-article","created":{"date-parts":[[2021,11,30]],"date-time":"2021-11-30T04:48:37Z","timestamp":1638247717000},"page":"12713","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1886-8257","authenticated-orcid":false,"given":"Alejandra","family":"Dami\u00e1n","sequence":"first","affiliation":[{"name":"Department of Genetics & Genomics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), 28290 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9577-314X","authenticated-orcid":false,"given":"Raluca Oancea","family":"Ionescu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University Hospital Cl\u00ednico San Carlos, 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Rodr\u00edguez de Alba","sequence":"additional","affiliation":[{"name":"Department of Genetics & Genomics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), 28290 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandra","family":"Tamayo","sequence":"additional","affiliation":[{"name":"Department of Genetics & Genomics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), 28290 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Jos\u00e9","family":"Trujillo-Tiebas","sequence":"additional","affiliation":[{"name":"Department of Genetics & Genomics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), 28290 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4693-4979","authenticated-orcid":false,"given":"Mar\u00eda Carmen","family":"Cotarelo-P\u00e9rez","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University Hospital Cl\u00ednico San Carlos, 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"P\u00e9rez Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital Cl\u00ednico San Carlos, 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Villaverde","sequence":"additional","affiliation":[{"name":"Department of Genetics & Genomics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), 28290 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"de la Fuente","sequence":"additional","affiliation":[{"name":"Department of Genetics & Genomics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), 28290 Madrid, Spain"},{"name":"Bioinformatics Unit, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), 28040, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Romero","sequence":"additional","affiliation":[{"name":"Department of Genetics & Genomics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), 28290 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5982-570X","authenticated-orcid":false,"given":"Gonzalo","family":"N\u00fa\u00f1ez-Moreno","sequence":"additional","affiliation":[{"name":"Department of Genetics & Genomics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain"},{"name":"Bioinformatics Unit, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), 28040, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4099-9421","authenticated-orcid":false,"given":"Pablo","family":"M\u00ednguez","sequence":"additional","affiliation":[{"name":"Department of Genetics & Genomics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), 28290 Madrid, Spain"},{"name":"Bioinformatics Unit, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), 28040, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9242-7065","authenticated-orcid":false,"given":"Carmen","family":"Ayuso","sequence":"additional","affiliation":[{"name":"Department of Genetics & Genomics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), 28290 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0087-1626","authenticated-orcid":false,"given":"Marta","family":"Cort\u00f3n","sequence":"additional","affiliation":[{"name":"Department of Genetics & Genomics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), 28290 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,11,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/nature15394","article-title":"An integrated map of structural variation in 2,504 human 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