{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:23:56Z","timestamp":1789691036710,"version":"4.0.1"},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,2,20]],"date-time":"2012-02-20T00:00:00Z","timestamp":1329696000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The <jats:italic>SRY\u2010BOX17<\/jats:italic> gene (<jats:italic>SOX17<\/jats:italic>) encodes a transcription factor playing a key role in different developmental processes including endoderm formation, cardiac myogenesis, kidney\/urinary development and differentiation of oligodendrocytes, the brain myelinating cells. In a candidate gene approach, we analyzed the <jats:italic>SOX17<\/jats:italic> gene in hypomyelinating leukodystrophies (HL) characterized by a permanent deficit in the amount of central nervous system myelin. Five genes are involved in the aetiology of HL but 40% of HL remains without known genetic origin (UHL). New sequence variations in <jats:italic>SOX17<\/jats:italic> were identified but all correspond to nonpathogenic variants, suggesting that <jats:italic>SOX17<\/jats:italic> is not involved in UHL phenotype. In one patient, we identified the c.775T&gt;A (p.Tyr259Asn) variation already reported as causative of congenital kidney and urinary tract abnormalities (CAKUT). Nevertheless, since our patient did not present such a phenotype, we propose that this variant may alternatively represent an \u201cat\u2010risk\u201d allele for CAKUT rather than a causative allele. This observation strengthens the idea that caution must be taken when linking genetic variation to disease, especially in discrete phenotypes such as CAKUT.<\/jats:p>","DOI":"10.1111\/j.1469-1809.2011.00702.x","type":"journal-article","created":{"date-parts":[[2012,2,20]],"date-time":"2012-02-20T19:51:53Z","timestamp":1329767513000},"page":"261-267","source":"Crossref","is-referenced-by-count":9,"title":["Relevance of <i>SOX17<\/i> Variants for Hypomyelinating Leukodystrophies and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)"],"prefix":"10.1111","volume":"76","author":[{"given":"Patricia","family":"Combes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Planche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u00e9onore","family":"Eymard\u2010Pierre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Sarret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Rodriguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Boespflug\u2010Tanguy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Vaurs\u2010Barriere","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,2,20]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.014"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-008-0034-x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/522090"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(91)90380-O"},{"key":"e_1_2_5_7_1","first-page":"418","article-title":"Congenitally short ureterovesical junction causing primary reflux\u2014a common familial and hereditary trait","volume":"6","author":"Burger R. 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