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Karola Marcinkowskiego w Poznaniu","doi-asserted-by":"publisher","award":["502\u201014\u201001126186\u201010642"],"award-info":[{"award-number":["502\u201014\u201001126186\u201010642"]}],"id":[{"id":"10.13039\/501100010438","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The ciliary chondrodysplasias represent a group of clinically and genetically heterogeneous disorders that affect skeleton development. Cilia are organelles that project from the surface of many cell types and play an important role during prenatal and postnatal human development. Cranioectodermal dysplasia (Sensenbrenner syndrome, CED) is a ciliopathy primarily characterized by craniofacial, skeletal, and ectodermal abnormalities. To date six genes have been associated with CED: <jats:italic>IFT122<\/jats:italic>, <jats:italic>WDR35<\/jats:italic>, <jats:italic>WDR19<\/jats:italic>, <jats:italic>IFT140<\/jats:italic>, <jats:italic>IFT43<\/jats:italic>, and <jats:italic>IFT52<\/jats:italic>. Prenatal diagnosis of CED is challenging, and genetic testing can facilitate making a correct diagnosis. Here, we report on a family with two male siblings affected by CED: a 3.5 year\u2010old patient and his 2 year\u2010old brother. Molecular analysis of the proband at 1 year of age revealed compound heterozygous variants in <jats:italic>WDR35<\/jats:italic>: c.3G&gt;A [p.(Met1\u2010Ala30delinsMetfsTer4)] and c.2522A&gt;T [p.(Asp841Val)]. Ultrasound examination during the second pregnancy revealed an increased nuchal translucency of 4.5\u2009mm and a hypoplastic nasal bone at 12\u2009weeks of gestation. Prenatal diagnostic testing was offered because of an increased risk for chromosomal abnormalities and recurrence risk for CED. Prenatal genetic analysis of a chorionic villus sample detected the <jats:italic>WDR35<\/jats:italic> variants previously identified in the elder brother. This is the first report of a prenatal genetic diagnosis in CED.<\/jats:p>","DOI":"10.1002\/ajmg.a.61785","type":"journal-article","created":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T03:14:25Z","timestamp":1598584465000},"page":"2417-2425","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in <scp><i>WDR35<\/i><\/scp>"],"prefix":"10.1002","volume":"182","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":"Beata","family":"Leszczynska","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology Medical University of Warsaw  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boyana","family":"Mikulska","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Institute of Mother and Child  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heleen H.","family":"Arts","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Dalhousie University  Halifax Nova Scotia 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Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Obersztyn","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,17]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.08.019"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2011.088864"},{"key":"e_1_2_10_4_1","article-title":"Cranioectodermal dysplasia","author":"Arts 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