{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:07Z","timestamp":1772160067529,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,3,27]],"date-time":"2021-03-27T00:00:00Z","timestamp":1616803200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U01HG009599"],"award-info":[{"award-number":["U01HG009599"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Bardet\u2010Biedl syndrome (BBS) is a rare ciliopathy characterized by rod\u2010cone dystrophy, postaxial polydactyly, truncal obesity and renal anomalies with autosomal recessive inheritance. We describe a 6\u2010year\u2010old male with early onset retinal dystrophy, postaxial polydactyly, truncal obesity and motor delays. Exome sequencing revealed a homozygous variant predicted to affect splicing of the\n                    <jats:italic>IFT74<\/jats:italic>\n                    gene, c.1685\u20101G\u2009&gt;\u2009T. This is the third patient with BBS due to variants predicting loss of function in\n                    <jats:italic>IFT74<\/jats:italic>\n                    . All three patients have had retinal dystrophy, polydactyly, obesity, developmental differences, and a notable lack of renal anomalies. We recommend that\n                    <jats:italic>IFT74<\/jats:italic>\n                    is added to gene panels for the diagnosis of BBS.\n                  <\/jats:p>","DOI":"10.1111\/cge.13962","type":"journal-article","created":{"date-parts":[[2021,3,21]],"date-time":"2021-03-21T22:45:00Z","timestamp":1616366700000},"page":"93-99","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Third case of\n                    <scp>Bardet\u2010Biedl<\/scp>\n                    syndrome caused by a biallelic variant predicted to affect splicing of\n                    <scp>\n                      <i>IFT74<\/i>\n                    <\/scp>"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3675-4528","authenticated-orcid":false,"given":"Anne H.","family":"Mardy","sequence":"first","affiliation":[{"name":"Division of Maternal Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences University of California  San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ugur","family":"Hodoglugil","sequence":"additional","affiliation":[{"name":"Genomic Medicine Lab University of California  San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiffany","family":"Yip","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics University of California  San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7053-2449","authenticated-orcid":false,"given":"Anne M.","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics University of California  San Francisco California USA"},{"name":"Division of Medical Genetics, Department of Pediatrics University of California  San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,3,27]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.115"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0804-9"},{"key":"e_1_2_8_4_1","volume-title":"Bardet\u2010Biedl Syndrome Overview","author":"Forsyth R","year":"1993"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13768"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0600158103"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13500"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.97"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0761-1"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101785"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00021"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.162"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw096"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104758"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0347-z"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.04.023"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-0594-z"},{"key":"e_1_2_8_18_1","article-title":"A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet\u2010Biedl syndrome","author":"Lor\u00e8s P","year":"2021","journal-title":"Hum Genet"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01106-z"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.187120"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1240985"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2015.04.060"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2443.2007.01076.x"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aat6177"},{"key":"e_1_2_8_25_1","unstructured":"Bioinformatics Software and Services | QIAGEN Digital Insights.2021.Human Gene Mutation Database (HGMD) Professional | QIAGEN.https:\/\/digitalinsights.qiagen.com\/products-overview\/clinical-insights-portfolio\/human-gene-mutation-d."},{"key":"e_1_2_8_26_1","unstructured":"Ncbi.nlm.nih.gov.2021.ClinVar.https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/. 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