{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T21:58:32Z","timestamp":1790891912344,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2012,9,17]],"date-time":"2012-09-17T00:00:00Z","timestamp":1347840000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sensenbrenner syndrome and unclassified short rib\u2010polydactyly conditions are ciliopathies with overlapping phenotypes and genetic heterogeneity. Mutations in <jats:italic>WDR35<\/jats:italic> were identified recently in a sub\u2010group of patients with Sensenbrenner syndrome and in a single family that presented with an unclassified form of short\u2010rib polydactyly (SRP) syndrome. We report on siblings with an unusual combination of phenotypes: narrow thorax, short stature, minor anomalies, developmental delay, and severe hepatic fibrosis leading to liver failure and early death in two of the children. Both parents were unaffected suggesting autosomal recessive inheritance. The family and their affected children were followed over a decade. Exome sequencing was performed in one affected individual. It showed a homozygous missense mutation in a highly conserved position of the <jats:italic>WDR35<\/jats:italic> gene. This family represents a <jats:italic>WDR35<\/jats:italic>\u2010ciliopathy with a complex clinical presentation that includes significant overlap of the phenotypes described in Sensenbrenner syndrome and the unclassified SRPs. The accurate molecular diagnosis of this family exemplifies the power of exome sequencing in the diagnosis of Mendelian disorders and enabled us to broaden and refine our understanding of Sensenbrenner syndrome and SRP. Detailed genotype\u2013phenotype information is provided as well as discussion of previously reported cases. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35608","type":"journal-article","created":{"date-parts":[[2012,9,17]],"date-time":"2012-09-17T17:39:11Z","timestamp":1347903551000},"page":"2917-2924","source":"Crossref","is-referenced-by-count":43,"title":["<i>WDR35<\/i> mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype"],"prefix":"10.1002","volume":"158A","author":[{"given":"Carlos A.","family":"Bacino","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shweta U.","family":"Dhar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Brunetti\u2010Pierri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penelope E.","family":"Bonnen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,9,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<349::AID-AJMG3>3.0.CO;2-O"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2011.088864"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.001"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.3577405"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1001025"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.004"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31989"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33013"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.03.015"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.176601"},{"key":"e_1_2_6_16_1","first-page":"437","article-title":"Low birthweight syndrome with asymmetric skeletal anomalies and persistent proteinuria","volume":"11","author":"Sensenbrenner JA","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_17_1","doi-asserted-by":"crossref","unstructured":"SiepelA PollardKS HausslerD.2006.New methods for detecting lineage\u2010specific selection. 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