{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T12:12:01Z","timestamp":1789906321727,"version":"4.0.1"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2008,6,28]],"date-time":"2008-06-28T00:00:00Z","timestamp":1214611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2008,8]]},"abstract":"<jats:p>Joubert syndrome\u2010related disorders (JSRDs) are autosomal recessive pleiotropic conditions sharing a peculiar cerebellar and brainstem malformation known as the \u2018molar tooth sign\u2019 (MTS). Recently, mutations in a novel ciliary gene, <jats:italic>RPGRIP1L<\/jats:italic>, have been shown to cause both JSRDs and Meckel\u2013Gruber syndrome. We searched for <jats:italic>RPGRIP1L<\/jats:italic> mutations in 120 patients with proven MTS and phenotypes representative of all JSRD clinical subgroups. Two homozygous mutations, the previously reported p.T615P in exon 15 and the novel c.2268_2269delA in exon 16, were detected in 2 of 16 families with cerebello\u2010renal presentation (\u223c12%). Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that <jats:italic>RPGRIP1L<\/jats:italic> mutations are largely confined to the cerebello\u2010renal subgroup, while they overall represent a rare cause of JSRD (&lt;2%).<\/jats:p>","DOI":"10.1111\/j.1399-0004.2008.01047.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T05:08:46Z","timestamp":1232687326000},"page":"164-170","source":"Crossref","is-referenced-by-count":61,"title":["<i>RPGRIP1L<\/i> mutations are mainly associated with the cerebello\u2010renal phenotype of Joubert syndrome\u2010related 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