{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T03:12:52Z","timestamp":1790651572510,"version":"4.1.0"},"reference-count":39,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2022,1,6]],"date-time":"2022-01-06T00:00:00Z","timestamp":1641427200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"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"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,6,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>In the framework of the UK 100\u2009000 Genomes Project, we investigated the genetic origin of a previously undescribed recessive dermatological condition, which we named LIPHAK (LTV1-associated Inflammatory Poikiloderma with Hair abnormalities and Acral Keratoses), in four affected individuals from two UK families of Pakistani and Indian origins, respectively. Our analysis showed that only one gene, LTV1, carried rare biallelic variants that were shared in all affected individuals, and specifically they bore the NM_032860.5:c.503A\u2009&amp;gt;\u2009G, p.(Asn168Ser) change, found homozygously in all of them. In addition, high-resolution homozygosity mapping revealed the presence of a small 652-kb stretch on chromosome 6, encompassing LTV1, that was haploidentical and common to all affected individuals. The c.503A\u2009&amp;gt;\u2009G variant was predicted by in silico tools to affect the correct splicing of LTV1\u2019s exon 5. Minigene-driven splicing assays in HEK293T cells and in a skin sample from one of the patients confirmed that this variant was indeed responsible for the creation of a new donor splice site, resulting in aberrant splicing and in a premature termination codon in exon 6 of this gene. LTV1 encodes one of the ribosome biogenesis factors that promote the assembly of the small (40S) ribosomal subunit. In yeast, defects in LTV1 alter the export of nascent ribosomal subunits to the cytoplasm; however, the role of this gene in human pathology is unknown to date. Our data suggest that LIPHAK could be a previously unrecognized ribosomopathy.<\/jats:p>","DOI":"10.1093\/hmg\/ddab368","type":"journal-article","created":{"date-parts":[[2021,12,30]],"date-time":"2021-12-30T20:13:24Z","timestamp":1640895204000},"page":"1970-1978","source":"Crossref","is-referenced-by-count":7,"title":["Mutations in the ribosome biogenesis factor gene <i>LTV1<\/i> are linked to LIPHAK syndrome, a novel poikiloderma-like disorder"],"prefix":"10.1093","volume":"31","author":[{"given":"Ji Hoon","family":"Han","sequence":"first","affiliation":[{"name":"Institute of Molecular and Clinical Ophthalmology Basel (IOB) , 4031 Basel , Switzerland"},{"name":"Department of Ophthalmology , University of Basel, 4031 Basel , Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gavin","family":"Ryan","sequence":"additional","affiliation":[{"name":"West Midlands Regional Genetics Laboratory , Central and South Genomic Laboratory Hub, Birmingham B15 2TG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alyson","family":"Guy","sequence":"additional","affiliation":[{"name":"Viapath , St Thomas' Hospital, London SE1 7EH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Liu","sequence":"additional","affiliation":[{"name":"Viapath , St Thomas' Hospital, London SE1 7EH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Quinodoz","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Clinical Ophthalmology Basel (IOB) , 4031 Basel , Switzerland"},{"name":"Department of Ophthalmology , University of Basel, 4031 Basel , Switzerland"},{"name":"Department of Genetics and Genome Biology , University of Leicester, Leicester LE1 7RH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Helbling","sequence":"additional","affiliation":[{"name":"Department of Dermatology , University Hospitals of Leicester NHS Trust, Leicester LE1 5WW , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joey E","family":"Lai-Cheong","sequence":"additional","affiliation":[{"name":"Frimley Park NHS Foundation Trust , Camberley GU16 7UJ , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Genomics England Research Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian","family":"Barwell","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genome Biology , University of Leicester, Leicester LE1 7RH , UK"},{"name":"Department of Clinical Genetics , University Hospitals of Leicester NHS Trust, Leicester LE1 5WW , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Folcher","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Clinical Ophthalmology Basel (IOB) , 4031 Basel , Switzerland"},{"name":"Department of Ophthalmology , University of Basel, 4031 Basel , Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A","family":"McGrath","sequence":"additional","affiliation":[{"name":"NIHR Biomedical Research Centre , Guy's and St Thomas' NHS Foundation Trust and King's College London, London SE1 9RT, UK"},{"name":"St John's Institute of Dermatology , King's College London (Guy's campus), London SE1 9RT , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celia","family":"Moss","sequence":"additional","affiliation":[{"name":"Department of Paediatric Dermatology , Birmingham Women\u2019s and Children\u2019s Hospital NHS FT, Birmingham B4 6NH , UK"},{"name":"College of Medical and Dental Sciences , University of Birmingham, Birmingham B15 2TT , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Rivolta","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Clinical Ophthalmology Basel (IOB) , 4031 Basel , Switzerland"},{"name":"Department of Ophthalmology , University of Basel, 4031 Basel , Switzerland"},{"name":"Department of Genetics and Genome Biology , University of Leicester, Leicester LE1 7RH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,1,6]]},"reference":[{"key":"2022062822005423800_ref1","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1111\/ijd.15498","article-title":"Inherited skin disorders presenting with poikiloderma","volume":"60","author":"Rayinda","year":"2021","journal-title":"Int. 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