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of ciliary diseases. To date, 34 subtypes of JBTS have been classified due to different causative genes or extra clinical features. Most of them are autosomal recessive, while only the subtype 10 (JBTS10) is a quite rare X-linked recessive disorder caused by\n                    <jats:italic>OFD1<\/jats:italic>\n                    mutations with few reports. In this study, by using whole exome sequencing (WES), a novel\n                    <jats:italic>OFD1<\/jats:italic>\n                    splicing mutation (c.2488+2T&gt;C) was identified in a male fetus with suspected Dandy-Walker variant (DWV) and syndactyly, for whom abnormal karyotype and pathogenic CNV have been excluded. This mutation was inherited from the mother who has experienced two similar pregnancies before. An abnormal skipping of exon 18 in\n                    <jats:italic>OFD1<\/jats:italic>\n                    mRNA was confirmed by RT-PCR and sequencing. Result from quantitative RT-PCR also showed that total\n                    <jats:italic>OFD1<\/jats:italic>\n                    mRNA in the index fetus was significantly lower than the control. After a combined analysis of genetic testing results and genotype-phenotype correlations, the novel mutation c.2488+2T&gt;C in\n                    <jats:italic>OFD1<\/jats:italic>\n                    was considered to be the genetic cause for the affected fetus. Thus the diagnosis should be JBTS10 rather than the primary clinical diagnosis of DWV. We report the first prenatal case of JBTS10 in Chinese population, which not only helps the family to predict recurrence risks for future pregnancies but also provides more information for understanding such a rare disease. The results also present evidence that WES is an effective method in prenatal diagnosis for those fetuses with Joubert syndrome.\n                  <\/jats:p>","DOI":"10.1155\/2018\/4032543","type":"journal-article","created":{"date-parts":[[2018,11,15]],"date-time":"2018-11-15T18:45:49Z","timestamp":1542307549000},"page":"1-7","source":"Crossref","is-referenced-by-count":12,"title":["Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in\n                    <i>OFD1<\/i>"],"prefix":"10.1155","volume":"2018","author":[{"given":"Siyuan","family":"Linpeng","sequence":"first","affiliation":[{"name":"Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Liu","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center of Hunan Province, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianyan","family":"Pan","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingxi","family":"Cao","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanling","family":"Teng","sequence":"additional","affiliation":[{"name":"Hunan Jiahui Genetics Hospital, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9451-8585","authenticated-orcid":true,"given":"Desheng","family":"Liang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, School of Life Sciences, Central South 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