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It is caused by defects in DHCR24, the gene encoding 3\u2010\u03b2\u2010hydroxysterol\u201024\u2010reductase (24\u2010dehydrocholesterol reductase), which acts in conversion of cholesterol precursor desmosterol, hence resulting in elevated plasma desmosterol levels. To date, desmosterolosis has been reported in 10 patients. Here we report an eleventh patient with desmosterolosis, and the first one to be diagnosed antenatally. Diagnosis was made on whole exome sequencing after amniocentesis due to complex antenatal abnormalities including cerebellar hypoplasia, microgyria, aortic stenosis, and renal tract abnormalities. Sterol quantitation was subsequently done postnatally, which supported the diagnosis. Although the nonspecific features make desmosterolosis difficult to suspect, we demonstrate that disorders of cholesterol synthesis can be considered as a differential diagnosis antenatally.<\/jats:p>","DOI":"10.1002\/ajmg.a.63083","type":"journal-article","created":{"date-parts":[[2022,12,20]],"date-time":"2022-12-20T23:25:20Z","timestamp":1671578720000},"page":"859-863","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["First case of desmosterolosis diagnosed by prenatal whole exome sequencing"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4837-404X","authenticated-orcid":false,"given":"Chloe","family":"Hill","sequence":"first","affiliation":[{"name":"Neonatal Unit, Heartlands Hospital University Hospitals Birmingham  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"Noureldein","sequence":"additional","affiliation":[{"name":"Neonatal Unit, Heartlands Hospital University Hospitals Birmingham  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pallavi","family":"Karkhanis","sequence":"additional","affiliation":[{"name":"Fetal Medicine, Heartlands Hospital University Hospitals Birmingham  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther","family":"Kinning","sequence":"additional","affiliation":[{"name":"Clinical Genetics Birmingham Women's and Children's  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suresh","family":"Vijay","sequence":"additional","affiliation":[{"name":"Paediatric Inherited Metabolic Disease Birmingham Women's and Children's  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harsha","family":"Gowda","sequence":"additional","affiliation":[{"name":"Neonatal Unit, Heartlands Hospital University Hospitals Birmingham  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,12,20]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.10873"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-94"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.1114"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.2.1.299"},{"key":"e_1_2_8_7_1","unstructured":"NHS National Genomic Test Directory. 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