{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T23:43:52Z","timestamp":1783381432409,"version":"3.54.6"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,1,4]],"date-time":"2002-01-04T00:00:00Z","timestamp":1010102400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Smith\u2010Lemli\u2010Opitz syndrome (SLOS) (Online Mendelian Inheritance in Man, OMIM\u2122, 2001, <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.ncbi.nlm.nih.gov\/omim\/\">http:\/\/www.ncbi.nlm.nih.gov\/omim\/<\/jats:ext-link> for SLOS, MIM 270400) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 3\u03b2\u2010hydroxysterol \u0394<jats:sup>7<\/jats:sup>\u2010reductase gene, <jats:italic>DHCR7<\/jats:italic>. We report on a female infant with an exceptionally mild phenotype of SLOS, in whom molecular studies identified a new mutation in <jats:italic>DHCR7<\/jats:italic>. The proposita initially presented with feeding difficulties, failure to thrive, hypotonia, mild developmental delay, and oral tactile aversion. She had minor facial anomalies and 2\u20133 syndactyly of her toes in both feet. The plasma cholesterol was borderline low at 2.88 mmol\/L (normal 2.97\u20134.40 mmol\/L). Elevated plasma 7\u2010dehydrocholesterol level of 200.0 \u03bcmol\/L confirmed the clinical diagnosis of SLOS. Molecular analysis demonstrated compound heterozygosity for IVS8\u20101G \u2192C and Y280C, a new missense mutation in <jats:italic>DHCR7<\/jats:italic>. Since the other mutation in this patient is a known null mutation, this newly discovered mutation is presumably associated with significant residual enzyme activity and milder expression of clinical phenotype. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10211","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T04:51:41Z","timestamp":1030251101000},"page":"64-68","source":"Crossref","is-referenced-by-count":18,"title":["Smith\u2010Lemli\u2010Opitz syndrome: New mutation with a mild phenotype"],"prefix":"10.1002","volume":"108","author":[{"given":"Chitra","family":"Prasad","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Marles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asuri 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J.M.","family":"Nowaczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,1,16]]},"reference":[{"key":"e_1_2_6_2_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_6_3_1","volume-title":"Manual for the Bayley scales of infant development","author":"Bayley N","year":"1969"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00695225"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<263::AID-AJMG4>3.0.CO;2-N"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.5.321"},{"key":"e_1_2_6_7_1","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1002\/(SICI)1096-8628(19961230)66:4<478::AID-AJMG22>3.0.CO;2-Q","article-title":"Holoprosencephaly in RSH\/Smith\u2010Lemli\u2010Opitz syndrome: does abnormal cholesterol metabolism affect 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