{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T02:08:31Z","timestamp":1790820511623,"version":"4.1.0"},"reference-count":41,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2022,3,24]],"date-time":"2022-03-24T00:00:00Z","timestamp":1648080000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"crossref","award":["ANR-18-CE14-0040"],"award-info":[{"award-number":["ANR-18-CE14-0040"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"crossref","award":["FDT202012010388"],"award-info":[{"award-number":["FDT202012010388"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003407","name":"MIUR","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"crossref"}]},{"name":"PERIS program","award":["SLT002\/16\/00174"],"award-info":[{"award-number":["SLT002\/16\/00174"]}]},{"name":"Autonomous Government of Catalonia","award":["2017SGR1206"],"award-info":[{"award-number":["2017SGR1206"]}]},{"name":"Center for Biomedical Research on Rare Diseases","award":["ACCI19-759"],"award-info":[{"award-number":["ACCI19-759"]}]},{"DOI":"10.13039\/100008666","name":"Fundaci\u00f3 La Marat\u00f3 de TV3","doi-asserted-by":"crossref","award":["595\/C\/2020"],"award-info":[{"award-number":["595\/C\/2020"]}],"id":[{"id":"10.13039\/100008666","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100018433","name":"Hesperia Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100018433","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Ministerio de Ciencia e Innovaci\u00f3n y Universidades","award":["FJCI-2016-28811"],"award-info":[{"award-number":["FJCI-2016-28811"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,10,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Sulphated proteoglycans are essential in skeletal and brain development. Recently, pathogenic variants in genes encoding proteins involved in the proteoglycan biosynthesis have been identified in a range of chondrodysplasia associated with intellectual disability. Nevertheless, several patients remain with unidentified molecular basis. This study aimed to contribute to the deciphering of new molecular bases in patients with chondrodysplasia and neurodevelopmental disease.<\/jats:p>\n               <jats:p>Exome sequencing was performed to identify pathogenic variants in patients presenting with chondrodysplasia and intellectual disability. The pathogenic effects of the potentially causative variants were analysed by functional studies.<\/jats:p>\n               <jats:p>We identified homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2 in two patients with pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy. By functional analyses, we showed that the variants affect SLC35B2 mRNA expression and protein subcellular localization leading to a functional impairment of the protein. Consistent with those results, we detected proteoglycan sulphation impairment in SLC35B2 patient fibroblasts and serum.<\/jats:p>\n               <jats:p>Our data support that SLC35B2 functional impairment causes a novel syndromic chondrodysplasia with hypomyelinating leukodystrophy, most likely through a proteoglycan sulphation defect. This is the first time that SLC35B2 variants are associated with bone and brain development in human.<\/jats:p>","DOI":"10.1093\/brain\/awac110","type":"journal-article","created":{"date-parts":[[2022,3,22]],"date-time":"2022-03-22T20:11:11Z","timestamp":1647979871000},"page":"3711-3722","source":"Crossref","is-referenced-by-count":20,"title":["Biallelic variants in <i>SLC35B2<\/i> cause a novel chondrodysplasia with hypomyelinating leukodystrophy"],"prefix":"10.1093","volume":"145","author":[{"given":"Alessandra","family":"Guasto","sequence":"first","affiliation":[{"name":"Paris Cit\u00e9 University, INSERM UMR1163, Imagine Institute , 75015 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanne","family":"Dubail","sequence":"additional","affiliation":[{"name":"Paris Cit\u00e9 University, INSERM UMR1163, Imagine Institute , 75015 Paris , 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