{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T02:46:47Z","timestamp":1791254807962,"version":"4.1.0"},"reference-count":28,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2009,7,2]]},"published-print":{"date-parts":[[2011,2]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>The lethal group of short-rib polydactyly (SRP) includes type I (Saldino-Noonan; MIM 263530), type II (Majewski; MIM 263520), type III (Verma-Naumoff; MIM 263510) and type IV (Beemer-Langer; MIM 269860). Jeune and Ellis-van Creveld dysplasias also used to be classified in the SRP group. Recently, mutations in a gene encoding a protein involved in intraflagellar transport, <jats:italic>IFT80<\/jats:italic>, have been identified in 3\/39 patients with Jeune dysplasia but no extraskeletal manifestation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Because of clinical and radiological similarities between Jeune dysplasia and the other lethal types of SRP, the authors decided to investigate <jats:italic>IFT80<\/jats:italic> in a cohort of fetuses with the lethal forms of SRP (Majewski, Verma-Naumoff and Beemer-Langer) and antenatally diagnosed cases of Jeune dysplasia. Fifteen fetuses were identified. A double-molecular approach was adopted. For consanguineous families and for those with recurrent sibs, a haplotype analysis around the gene locus was first performed, and, for the others, all the coding exons of <jats:italic>IFT80<\/jats:italic> were directly sequenced.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Using the haplotype approach for two families, the authors excluded the <jats:italic>IFT80<\/jats:italic> region as a candidate for them. Direct sequencing of <jats:italic>IFT80<\/jats:italic> in the other 13 cases showed a G-to-C transversion in exon 8 (G241R) in only one SRP case closely related to the type III phenotype.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The findings show that mutations in <jats:italic>IFT80<\/jats:italic> can also be responsible for a lethal form of SRP and provide the molecular basis for the Jeune-Verma-Naumoff dysplasia spectrum.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2009.069468","type":"journal-article","created":{"date-parts":[[2009,7,31]],"date-time":"2009-07-31T20:13:24Z","timestamp":1249071204000},"page":"88-92","source":"Crossref","is-referenced-by-count":64,"title":["Mutation in <i>IFT80<\/i> in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum"],"prefix":"10.1136","volume":"48","author":[{"given":"Denise P","family":"Cavalcanti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celine","family":"Huber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim-Hanh","family":"Le Quan Sang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Baujat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felicity","family":"Collins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Lise","family":"Delezoide","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Dagoneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Le Merrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jelena","family":"Martinovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcos Fernando S","family":"Mello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Vekemans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Cormier-Daire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2009,7,30]]},"reference":[{"key":"2025100511255554000_48.2.88.1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.31483","article-title":"Nosology and classification of genetic skeletal disorders: 2006 revision","volume":"143","author":"Superti-Furga","year":"2007","journal-title":"Am J Med Genet A"},{"key":"2025100511255554000_48.2.88.2","doi-asserted-by":"crossref","unstructured":"Lachman RS . 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