{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T07:14:37Z","timestamp":1792566877899,"version":"4.5.0"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,7,13]],"date-time":"2021-07-13T00:00:00Z","timestamp":1626134400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hydrolethalus syndrome (HLS) is a rare lethal fetal malformation disorder related to ciliogenesis disruption. This condition is more frequent in Finland where a founder missense variant in the\n                    <jats:italic>HYLS1<\/jats:italic>\n                    gene was identified. No other\n                    <jats:italic>HYLS1<\/jats:italic>\n                    variant has hitherto been implicated in HLS. We report two unrelated French fetuses presenting with a phenotype of HLS with brain abnormalities, limbs malformations with pre and postaxial hexadactyly and abnormal genitalia. These two fetuses have compound heterozygous variants in\n                    <jats:italic>HYLS<\/jats:italic>\n                    1. The first allele carries the same Finnish missense variant (NM_145014.2: c.632A\u2009&gt;\u2009G, p.[Asp211Gly]) in both fetuses and the second allele carries a new missense variant (c.662G\u2009&gt;\u2009C, p.[Arg221Pro]) in the first fetus, and a new nonsense variant (c.613C\u2009&gt;\u2009T, p.[Arg205*]) in the second fetus. This is the first report of\n                    <jats:italic>HYLS1<\/jats:italic>\n                    mutated cases outside Finland. Both cases presented here are consistent with HLS with additional malformations, allowing expansion of the phenotypic presentation previously described.\n                  <\/jats:p>","DOI":"10.1111\/cge.14021","type":"journal-article","created":{"date-parts":[[2021,7,2]],"date-time":"2021-07-02T04:42:45Z","timestamp":1625200965000},"page":"462-467","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The first two\n                    <scp>\n                      non\u2010Finnish\n                      <i>HYLS1<\/i>\n                    <\/scp>\n                    variants: Expanding the phenotypic spectrum of hydrolethalus syndrome"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0540-5579","authenticated-orcid":false,"given":"Le\u00efla","family":"Ghesh","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Nantes  Nantes France"},{"name":"UF de F\u0153topathologie et G\u00e9n\u00e9tique CHU de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie Denis","family":"Musquer","sequence":"additional","affiliation":[{"name":"UF de F\u0153topathologie et G\u00e9n\u00e9tique CHU de Nantes  Nantes France"},{"name":"Service d'Anatomie et Cytologie Pathologiques CHU Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Devisme","sequence":"additional","affiliation":[{"name":"Service d'Anatomie et Cytologie Pathologiques CHRU de Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morgane","family":"Stichelbout","sequence":"additional","affiliation":[{"name":"Service d'Anatomie et Cytologie Pathologiques CHRU de Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucile","family":"Boutaud","sequence":"additional","affiliation":[{"name":"Service d'Histo\u2010Embryologie et de Cytog\u00e9n\u00e9tique Unit\u00e9 d'Embryofoetopathologie, H\u00f4pital Necker Enfants\u2010Malades, Assistance Publique H\u00f4pitaux de Paris  Paris France"},{"name":"Institut Imagine, INSERM U1163 Universit\u00e9 Paris Descartes, Sorbonne Paris Cite  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Elkhartoufi","sequence":"additional","affiliation":[{"name":"Service d'Histo\u2010Embryologie et de Cytog\u00e9n\u00e9tique Unit\u00e9 d'Embryofoetopathologie, H\u00f4pital Necker Enfants\u2010Malades, Assistance Publique H\u00f4pitaux de Paris  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Vaast","sequence":"additional","affiliation":[{"name":"Service d'Echographie F\u0153tale et de M\u00e9decine F\u0153tale CHRU de Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Boute","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHRU de Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Sophie","family":"Riteau","sequence":"additional","affiliation":[{"name":"Service de Gyn\u00e9cologie\u2010Obst\u00e9trique CHU Nantes  Nantes France"},{"name":"Service de Gyn\u00e9cologie\u2010Obst\u00e9trique Clinique Jules Vernes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudine","family":"Le Vaillant","sequence":"additional","affiliation":[{"name":"Service de Gyn\u00e9cologie\u2010Obst\u00e9trique CHU Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert","family":"Winer","sequence":"additional","affiliation":[{"name":"Service de Gyn\u00e9cologie\u2010Obst\u00e9trique CHU Nantes  Nantes France"},{"name":"UMR PhAN 1280 NUN INRAE F\u201044000 Universit\u00e9 de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine","family":"Joubert","sequence":"additional","affiliation":[{"name":"UF de F\u0153topathologie et G\u00e9n\u00e9tique CHU de Nantes  Nantes France"},{"name":"Service d'Anatomie et Cytologie Pathologiques CHU Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Bezieau","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Nantes  Nantes France"},{"name":"L'institut du Thorax, INSERM, CNRS, UNIV Nantes CHU de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Thomas","sequence":"additional","affiliation":[{"name":"Institut Imagine, INSERM U1163 Universit\u00e9 Paris Descartes, Sorbonne Paris Cite  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1155-3626","authenticated-orcid":false,"given":"Tania","family":"Attie\u2010Bitach","sequence":"additional","affiliation":[{"name":"Service d'Histo\u2010Embryologie et de Cytog\u00e9n\u00e9tique Unit\u00e9 d'Embryofoetopathologie, H\u00f4pital Necker Enfants\u2010Malades, Assistance Publique H\u00f4pitaux de Paris  Paris France"},{"name":"Institut Imagine, INSERM U1163 Universit\u00e9 Paris Descartes, Sorbonne Paris Cite  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Beneteau","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Nantes  Nantes France"},{"name":"UF de F\u0153topathologie et G\u00e9n\u00e9tique CHU de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,7,13]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1810409"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb00718.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.12.756"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.870"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi157"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0877-1"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.826"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.06.003"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e318180ec2e"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI43639"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8417-2-2"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12752"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103087"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3466"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14021","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14021","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14021","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T19:37:23Z","timestamp":1693337843000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14021"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,13]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["10.1111\/cge.14021"],"URL":"https:\/\/doi.org\/10.1111\/cge.14021","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14021\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14021\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14021\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14021\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14021\/v1\/review2","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,13]]},"assertion":[{"value":"2021-04-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}