{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T23:16:15Z","timestamp":1790810175956,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2011,6,10]],"date-time":"2011-06-10T00:00:00Z","timestamp":1307664000000},"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":[[2011,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Desmosterolosis, a rare disorder of cholesterol biosynthesis, is caused by mutations in <jats:italic>DHCR24<\/jats:italic>, the gene encoding the enzyme 24\u2010dehydrocholesterol reductase (DHCR24). To date, desmosterolosis has been described in only two patients. Here we report on a third patient with desmosterolosis who presented after delivery with relative macrocephaly, mild arthrogryposis, and dysmorphic facial features. Brain MRI revealed hydrocephalus, thickening of the tectum and massa intermedia, mildly effaced gyral pattern, underopercularization, and a thin corpus callosum. The diagnosis of desmosterolosis was established by detection of significant elevation of plasma desmosterol levels and reduced enzyme activity of DHCR24 upon expression of the patient's DHCR24 cDNA in yeast. The patient was found to be a compound heterozygote for c.281G&gt;A (p.R94H) and c.1438G&gt;A (p.E480K) mutations. Structural and evolutionary analyses showed that residue R94 resides at the flavin adenine dinucleotide (FAD) binding site and is strictly conserved throughout evolution, while residue E480 is less conserved, but the charge shift substitution is accompanied by drastic changes in the local protein environment of that residue. We compare the phenotype of our patient with previously reported cases. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34040","type":"journal-article","created":{"date-parts":[[2011,6,10]],"date-time":"2011-06-10T19:37:28Z","timestamp":1307734648000},"page":"1597-1604","source":"Crossref","is-referenced-by-count":66,"title":["Desmosterolosis\u2014phenotypic and molecular characterization of a third case and review of the literature"],"prefix":"10.1002","volume":"155","author":[{"given":"Christian P.","family":"Schaaf","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Koster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panagiotis","family":"Katsonis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Kratz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oleg A.","family":"Shchelochkov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Scaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard I.","family":"Kelley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Lichtarge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans R.","family":"Waterham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwan","family":"Shinawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,6,10]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.10.1654"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980806)78:5<413::AID-AJMG4>3.0.CO;2-M"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.10873"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e31819ea4eb"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31788"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1986.tb04288.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1134"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<305::AID-AJMG11>3.0.CO;2-X"},{"key":"e_1_2_7_10_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_7_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/518177"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20525"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.13.7307"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0537-7"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-7055-2"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32537"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<311::AID-AJMG12>3.0.CO;2-W"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.1995.64020895.x"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(95)06038-4"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.5.321"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-007-0018-x"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199310000-00010"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.1996.0167"},{"key":"e_1_2_7_24_1","first-page":"725","article-title":"Linear growth of long bones of extremities from infancy through adolescence; 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