Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome
We analyzed seven unrelated children with the Smith-Lemli-Opitz syndrome (SLOS) for mutations in the delta7-sterol reductase gene by using SSCP and direct sequencing. We identified two novel mutations (V330M and R363C) in the DHCR7 gene. Reported mutations found in this study were T93M (3/14 alleles...
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| Veröffentlicht in: | Molecular and cellular probes 2002-08, Vol.16 (4), p.315-318 |
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| container_title | Molecular and cellular probes |
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| creator | Patrono, C Dionisi-Vici, C Giannotti, A Bembi, B Digilio, M C Rizzo, C Purificato, C Martini, C Pierini, R Santorelli, F M |
| description | We analyzed seven unrelated children with the Smith-Lemli-Opitz syndrome (SLOS) for mutations in the delta7-sterol reductase gene by using SSCP and direct sequencing. We identified two novel mutations (V330M and R363C) in the DHCR7 gene. Reported mutations found in this study were T93M (3/14 alleles), E448K (2/14), and W151X, G244R, P329L, and R446Q (each found in one allele). The so-called common IVS8-1 G --> C was found in three alleles, confirming its relative rarity among Italian SLOS families. By using a scoring system, clinical severity did not seem to correlate with 7DHC levels and type of mutation. Expanding the spectrum of mutations in SLOS, our study does not support direct genotype-phenotype correlation. |
| format | Article |
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We identified two novel mutations (V330M and R363C) in the DHCR7 gene. Reported mutations found in this study were T93M (3/14 alleles), E448K (2/14), and W151X, G244R, P329L, and R446Q (each found in one allele). The so-called common IVS8-1 G --> C was found in three alleles, confirming its relative rarity among Italian SLOS families. By using a scoring system, clinical severity did not seem to correlate with 7DHC levels and type of mutation. Expanding the spectrum of mutations in SLOS, our study does not support direct genotype-phenotype correlation.</description><identifier>ISSN: 0890-8508</identifier><identifier>PMID: 12270273</identifier><language>eng</language><publisher>England</publisher><subject>Alleles ; Child ; Child, Preschool ; Cholesterol - blood ; Dehydrocholesterols - blood ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Italy ; Male ; Mutation ; Oxidoreductases - genetics ; Oxidoreductases Acting on CH-CH Group Donors ; Severity of Illness Index ; Smith-Lemli-Opitz Syndrome - genetics</subject><ispartof>Molecular and cellular probes, 2002-08, Vol.16 (4), p.315-318</ispartof><rights>Copyright 2002 Elsevier Science Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12270273$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Patrono, C</creatorcontrib><creatorcontrib>Dionisi-Vici, C</creatorcontrib><creatorcontrib>Giannotti, A</creatorcontrib><creatorcontrib>Bembi, B</creatorcontrib><creatorcontrib>Digilio, M C</creatorcontrib><creatorcontrib>Rizzo, C</creatorcontrib><creatorcontrib>Purificato, C</creatorcontrib><creatorcontrib>Martini, C</creatorcontrib><creatorcontrib>Pierini, R</creatorcontrib><creatorcontrib>Santorelli, F M</creatorcontrib><title>Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome</title><title>Molecular and cellular probes</title><addtitle>Mol Cell Probes</addtitle><description>We analyzed seven unrelated children with the Smith-Lemli-Opitz syndrome (SLOS) for mutations in the delta7-sterol reductase gene by using SSCP and direct sequencing. We identified two novel mutations (V330M and R363C) in the DHCR7 gene. Reported mutations found in this study were T93M (3/14 alleles), E448K (2/14), and W151X, G244R, P329L, and R446Q (each found in one allele). The so-called common IVS8-1 G --> C was found in three alleles, confirming its relative rarity among Italian SLOS families. By using a scoring system, clinical severity did not seem to correlate with 7DHC levels and type of mutation. Expanding the spectrum of mutations in SLOS, our study does not support direct genotype-phenotype correlation.</description><subject>Alleles</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cholesterol - blood</subject><subject>Dehydrocholesterols - blood</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Italy</subject><subject>Male</subject><subject>Mutation</subject><subject>Oxidoreductases - genetics</subject><subject>Oxidoreductases Acting on CH-CH Group Donors</subject><subject>Severity of Illness Index</subject><subject>Smith-Lemli-Opitz Syndrome - genetics</subject><issn>0890-8508</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1kE9LwzAchntQ3Jx-BclJ9BBImqRNjzJ1EwYD3b2kza82kj9dkzrmp3fgvLzv5eE5PBfZnMiKYCmInGXXMX4RQipO5FU2o3lekrxk82y_OwTkwzdY5Kakkgk-otCh1APqJ6c80mCTKnFMMAaLRtBTm1QE9PC8Xr6Xj-gTPCDjUdsbq0fw6GBSjz7cafEGnDV4O5j0g-LR6zE4uMkuO2Uj3J5_ke1eX3bLNd5sV2_Lpw0eBGdYyY4rwRpWqUJTXrCWcN0UTUeFlLRtacHLRrJCM8FbUdK8E4TnlSKU5pIBY4vs_k87jGE_QUy1M7EFa5WHMMW6zE8RGK1O4N0ZnBoHuh5G49R4rP8bsV8PmWEa</recordid><startdate>200208</startdate><enddate>200208</enddate><creator>Patrono, C</creator><creator>Dionisi-Vici, C</creator><creator>Giannotti, A</creator><creator>Bembi, B</creator><creator>Digilio, M C</creator><creator>Rizzo, C</creator><creator>Purificato, C</creator><creator>Martini, C</creator><creator>Pierini, R</creator><creator>Santorelli, F M</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>200208</creationdate><title>Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome</title><author>Patrono, C ; Dionisi-Vici, C ; Giannotti, A ; Bembi, B ; Digilio, M C ; Rizzo, C ; Purificato, C ; Martini, C ; Pierini, R ; Santorelli, F M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p543-a8f4a53b39a6d1463c04db6bf15881cc1647b836d354c5712f50429a011283e33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Alleles</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Cholesterol - blood</topic><topic>Dehydrocholesterols - blood</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Italy</topic><topic>Male</topic><topic>Mutation</topic><topic>Oxidoreductases - genetics</topic><topic>Oxidoreductases Acting on CH-CH Group Donors</topic><topic>Severity of Illness Index</topic><topic>Smith-Lemli-Opitz Syndrome - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Patrono, C</creatorcontrib><creatorcontrib>Dionisi-Vici, C</creatorcontrib><creatorcontrib>Giannotti, A</creatorcontrib><creatorcontrib>Bembi, B</creatorcontrib><creatorcontrib>Digilio, M C</creatorcontrib><creatorcontrib>Rizzo, C</creatorcontrib><creatorcontrib>Purificato, C</creatorcontrib><creatorcontrib>Martini, C</creatorcontrib><creatorcontrib>Pierini, R</creatorcontrib><creatorcontrib>Santorelli, F M</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Molecular and cellular probes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Patrono, C</au><au>Dionisi-Vici, C</au><au>Giannotti, A</au><au>Bembi, B</au><au>Digilio, M C</au><au>Rizzo, C</au><au>Purificato, C</au><au>Martini, C</au><au>Pierini, R</au><au>Santorelli, F M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome</atitle><jtitle>Molecular and cellular probes</jtitle><addtitle>Mol Cell Probes</addtitle><date>2002-08</date><risdate>2002</risdate><volume>16</volume><issue>4</issue><spage>315</spage><epage>318</epage><pages>315-318</pages><issn>0890-8508</issn><abstract>We analyzed seven unrelated children with the Smith-Lemli-Opitz syndrome (SLOS) for mutations in the delta7-sterol reductase gene by using SSCP and direct sequencing. We identified two novel mutations (V330M and R363C) in the DHCR7 gene. Reported mutations found in this study were T93M (3/14 alleles), E448K (2/14), and W151X, G244R, P329L, and R446Q (each found in one allele). The so-called common IVS8-1 G --> C was found in three alleles, confirming its relative rarity among Italian SLOS families. By using a scoring system, clinical severity did not seem to correlate with 7DHC levels and type of mutation. Expanding the spectrum of mutations in SLOS, our study does not support direct genotype-phenotype correlation.</abstract><cop>England</cop><pmid>12270273</pmid><tpages>4</tpages></addata></record> |
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| ispartof | Molecular and cellular probes, 2002-08, Vol.16 (4), p.315-318 |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Alleles Child Child, Preschool Cholesterol - blood Dehydrocholesterols - blood DNA Mutational Analysis Female Humans Infant Italy Male Mutation Oxidoreductases - genetics Oxidoreductases Acting on CH-CH Group Donors Severity of Illness Index Smith-Lemli-Opitz Syndrome - genetics |
| title | Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome |
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