{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:13:42Z","timestamp":1792152822663,"version":"4.4.0"},"reference-count":16,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2007,6,29]],"date-time":"2007-06-29T00:00:00Z","timestamp":1183075200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2007,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations of the ataxia\u2010telangiectasia\u2010mutated (ATM) gene are responsible for the autosomal recessive disorder ataxia\u2010telangiectasia (A\u2010T). This study reports the first A\u2010T prenatal diagnosis performed in Spain by direct molecular analysis. The pregnant woman had a previous child suffering from A\u2010T due to a deletion in the ATM gene. The ATM coding region was sequenced in the A\u2010T patient and her parents. Then, a specific polymerase chain reaction (PCR) to detect the deletion was performed for prenatal diagnosis. Additionally, polymorphic HLA loci were examined in order to exclude the possible contamination by maternal DNA. In this family of Gypsy origin, we carried out a rapid molecular diagnosis of A\u2010T. Then, a prenatal diagnosis was carried out, identifying the deletion in the fetal DNA. Additionally, we performed a population study in unrelated Spanish Gypsies and in unrelated controls, showing that the deletion described could be a hotspot in the Spanish Gypsy population. The size of the coding region and the genomic structure, together with the absence of hotspots, make the mutation screening of the ATM gene difficult. The ability to identify ATM mutations provides a tool that can be applied in confirmatory diagnosis, genetic counselling, carrier prediction and prenatal diagnosis. Copyright \u00a9 2007 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.1787","type":"journal-article","created":{"date-parts":[[2007,6,29]],"date-time":"2007-06-29T16:41:12Z","timestamp":1183135272000},"page":"861-864","source":"Crossref","is-referenced-by-count":7,"title":["Rapid molecular prenatal diagnosis of ataxia\u2010telangiectasia by direct mutational analysis"],"prefix":"10.1002","volume":"27","author":[{"given":"Esther","family":"Mancebo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iv\u00e1n","family":"Bernardo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria J.","family":"Castro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco J.","family":"Fern\u00e1ndez\u2010Martinez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia","family":"Barreiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paloma","family":"De\u2010Pablos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.a Jes\u00fas","family":"Marin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Cortezon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estela","family":"Paz\u2010Artal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis M.","family":"Allende","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,6,29]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10156"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199906)19:6<542::AID-PD586>3.0.CO;2-L"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/09553009414552011"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2249.2001.01452.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199103000-00003"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/336577a0"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(93)91525-Q"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/301755"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/8.8.785"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132673"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970101006"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.imbio.2005.03.006"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2003.12.046"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7792600"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970050103"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199710)17:10<989::AID-PD177>3.0.CO;2-M"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1787","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1787","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T14:15:56Z","timestamp":1700057756000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1787"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6,29]]},"references-count":16,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2007,9]]}},"alternative-id":["10.1002\/pd.1787"],"URL":"https:\/\/doi.org\/10.1002\/pd.1787","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,6,29]]}}}