{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T14:15:06Z","timestamp":1790259306527,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,11,14]],"date-time":"2017-11-14T00:00:00Z","timestamp":1510617600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100010438","name":"Poznan University of Medical Sciences","doi-asserted-by":"crossref","award":["502-14-01126186-10642"],"award-info":[{"award-number":["502-14-01126186-10642"]}],"id":[{"id":"10.13039\/501100010438","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Polish National Centre for Research and Development","award":["LIDER\/008\/431\/L-4\/12\/NCBR\/2013"],"award-info":[{"award-number":["LIDER\/008\/431\/L-4\/12\/NCBR\/2013"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy first described by Judith Sensenbrenner in 1975. CED is a complex disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. The clinical symptoms are variable and the CED phenotype may present intrafamilial and interfamilial differences. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disease. Mutations in six genes: <jats:italic>IFT122, WDR35, IFT43, WDR19, IFT52<\/jats:italic>, and <jats:italic>IFT140<\/jats:italic> have been associated with this disorder. All known CED genes encode proteins that are part of the intraflagellar transport complex, which plays an important role in the assembly and maintenance of cilia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case<\/jats:title><jats:p>We report a on 2\u2010year\u2010old male patient affected by Sensenbrenner syndrome. Dysmorphic features included short stature with rhizomelic shortening of limbs, short fingers, narrow chest, high forehead, epicanthal folds, telecanthus, broad nasal bridge, low\u2010set ears, sparse hair, and widely space teeth. Craniosynostosis was surgically corrected at the age of 4 months. The patient presented chronic renal disease. Nephrologic picture showed early stages of nephronophthisis. Psychomotor development was apparently normal. Molecular analysis of the affected individual revealed compound heterozygosity for a novel nonsense p.(Arg113*) and a missense p.(Asp841Val) variant in the <jats:italic>WDR35<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The observations of the CED patient in this study provide additional clinical data and expand the molecular spectrum of Sensenbrenner syndrome. Moreover, the two variants identified in the proband provide further evidence for the <jats:italic>WDR35<\/jats:italic> mutations as the most common cause of this rare syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.1151","type":"journal-article","created":{"date-parts":[[2017,11,14]],"date-time":"2017-11-14T06:22:44Z","timestamp":1510640564000},"page":"376-381","source":"Crossref","is-referenced-by-count":9,"title":["Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic <i>WDR35<\/i> mutations"],"prefix":"10.1002","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4662-9336","authenticated-orcid":false,"given":"Joanna","family":"Walczak\u2010Sztulpa","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9473-2733","authenticated-orcid":false,"given":"Anna","family":"Wawrocka","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Swiader\u2010Lesniak","sequence":"additional","affiliation":[{"name":"Department of Anthropology The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Socha","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksander","family":"Jamsheer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Drozdz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology and Hypertension, Faculty of Medicine Jagiellonian University Medical College Cracow Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Latos\u2010Bielenska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Zachwieja","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology and Hypertension, Faculty of Medicine Jagiellonian University Medical College Cracow Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,11,14]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2017.08.019","article-title":"Exome sequencing for the differential diagnosis of ciliary chondrodysplasia: Example of a WDR35 mutation case and review of the literature","author":"Antony D.","year":"2017","journal-title":"European Journal of Medical Genetics."},{"key":"e_1_2_7_3_1","first-page":"90","article-title":"C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome","volume":"48","author":"Arts H. H.","year":"2011","journal-title":"Journal of Medical Genetics"},{"key":"e_1_2_7_4_1","unstructured":"Arts H. H. &Knoers N.(2013). Cranioectodermal dysplasia. In M. P. Adam H. H. Ardinger R. A. Pagon S. E. Wallace L. J. H. Bean H. C. Mefford \u2026 N. Ledbetter (Eds.) GeneReviews\u00ae. Seattle (WA): University of Washington."},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35608"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000169"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.001"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv152"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2278"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.004"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12762"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01880.x"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37133"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.03.015"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2014.05.001"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1593841"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/febs.14068"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_19_1","first-page":"46","article-title":"Clinical genetics and pathobiology of ciliary chondrodysplasias","volume":"3","author":"Schmidts M.","year":"2014","journal-title":"Journal of Pediatric Genetics"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37514"},{"key":"e_1_2_7_21_1","first-page":"372","article-title":"New syndrome of skeletal, dental and hair anomalies","volume":"11","author":"Sensenbrenner J. 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