{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,23]],"date-time":"2024-07-23T07:12:03Z","timestamp":1721718723435},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2001,3,7]],"date-time":"2001-03-07T00:00:00Z","timestamp":983923200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"French Bourneville Association (ASTB)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2001,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tuberous sclerosis (TSC) is a frequent autosomal\u2010dominant condition (affecting 1 in 6000 individuals) caused by various mutations in either the hamartin (TSC1) or the tuberin gene (TSC2). This allelic and non\u2010allelic heterogeneity makes genetic counseling and prenatal diagnosis difficult, especially as a significant proportion of TSC cases are due to <jats:italic>de novo<\/jats:italic> mutations. For this reason the identification of the disease causing mutation is mandatory for accurate counseling, yet current mutation detection methods such as single\u2010strand conformation polymorphism (SSCP) or denaturing gradient gel electrophoresis (DGGE) are labor intensive with limited detection efficiency. Denaturing high\u2010performance liquid chromatography (DHPLC) is a high\u2010throughput, semi\u2010automated mutation detection system with a reported mutation detection rate close to 100% for PCR fragments of up to 800\u2009bp. We used a recently described DHPLC assay allowing the efficient detection of mutations in TSC1 to analyze the DNA extracted from a chorion villus sample in order to perform a prenatal diagnosis for TSC. The fetus was found not to have inherited the deleterious mutation and the DHPLC diagnosis was confirmed by haplotype analysis. This represents the first DHPLC\u2010based prenatal diagnosis of a genetic disease. Copyright \u00a9 2001 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.55","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T21:30:12Z","timestamp":1030311012000},"page":"279-283","source":"Crossref","is-referenced-by-count":13,"title":["Denaturing high\u2010performance liquid chromatography (DHPLC)\u2010based prenatal diagnosis for tuberous sclerosis"],"prefix":"10.1002","volume":"21","author":[{"given":"Paule","family":"B\u00e9nit","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Paul","family":"Bonnefont","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Kara Mostefa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Francannet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre F.","family":"Ray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,3,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(199911)14:5<428::AID-HUMU9>3.0.CO;2-5"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200011)16:5<417::AID-HUMU6>3.0.CO;2-4"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.10.1829"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-1809.1999.6350383.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90618-Z"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1991.tb37742.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0294-193"},{"key":"e_1_2_1_9_1","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1007\/s004399900092","article-title":"A comparison of BRCA 1 mutation analysis by direct sequencing, SSCP and DHPLC","volume":"105","author":"Gross E","year":"1999","journal-title":"Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1113"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.12.2155"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/302381"},{"key":"e_1_2_1_13_1","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1007\/s004390000316","article-title":"Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis","volume":"106","author":"Jones AC","year":"2000","journal-title":"Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970060408"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-1809.1998.6240277.x"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.6.1396"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)93193-Q"},{"key":"e_1_2_1_18_1","first-page":"633","article-title":"Antenatal ultrasonographic findings in tuberous sclerosis. 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