{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T12:29:29Z","timestamp":1765888169627,"version":"3.41.2"},"reference-count":33,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,6,17]],"date-time":"2019-06-17T00:00:00Z","timestamp":1560729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI15\/01159"],"award-info":[{"award-number":["PI15\/01159"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Rett syndrome (RTT) is a developmental disorder with an early onset and X\u2010linked dominant inheritance pattern. It is first recognized in infancy and is seen almost always in girls, but it may be seen in boys on rare occasions. Typical RTT is caused by de novo mutations of the gene <jats:italic>MECP2<\/jats:italic> (OMIM*300005), and atypical forms of RTT can be caused by mutations of the <jats:italic>CDKL5<\/jats:italic> (OMIM*300203) and <jats:italic>FOXG1<\/jats:italic> (OMIM*164874) genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Approximately 5% of the mutations detected in <jats:italic>MECP2<\/jats:italic> are large rearrangements that range from exons to the entire gene. Here, we have characterized the deletions detected by multiplex ligation\u2010dependent probe amplification (MLPA) in the gene <jats:italic>MECP2<\/jats:italic> of 21 RTT patients. Breakpoints were delineated by DNA\u2010qPCR until the amplification of the deleted allele by long\u2010PCR was possible.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>This methodology enabled us to characterize deletions ranging from 1,235\u00a0bp to 85\u00a0kb, confirming the partial or total deletion of the <jats:italic>MECP2<\/jats:italic> gene in all these patients. Additionally, our cases support the evidence claiming that most of these breakpoints occur in some restricted regions of the <jats:italic>MECP2<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These molecular data together with the clinical information enable us to propose a genotype\u2013phenotype correlation, which is essential for providing genetic counseling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.793","type":"journal-article","created":{"date-parts":[[2019,6,17]],"date-time":"2019-06-17T15:48:13Z","timestamp":1560786493000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Characterization of large deletions of the <i>MECP2<\/i> gene in Rett syndrome patients by gene dosage analysis"],"prefix":"10.1002","volume":"7","author":[{"given":"Silvia","family":"Vidal","sequence":"first","affiliation":[{"name":"Sant Joan de D\u00e9u Research Foundation Barcelona Spain"},{"name":"Sant Joan de D\u00e9u Research Institute (IRSJD) Hospital Sant Joan de D\u00e9u Esplugues de Lobregat (Barcelona) Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ainhoa","family":"Pascual\u2010Alonso","sequence":"additional","affiliation":[{"name":"Sant Joan de D\u00e9u Research Foundation Barcelona Spain"},{"name":"Sant Joan de D\u00e9u Research Institute (IRSJD) Hospital Sant Joan de D\u00e9u Esplugues de Lobregat (Barcelona) Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Rabaza\u2010Gair\u00ed","sequence":"additional","affiliation":[{"name":"Sant Joan de D\u00e9u Research Foundation Barcelona Spain"},{"name":"Sant Joan de D\u00e9u Research Institute (IRSJD) Hospital Sant Joan de D\u00e9u Esplugues de Lobregat (Barcelona) Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edgar","family":"Gerotina","sequence":"additional","affiliation":[{"name":"Sant Joan de D\u00e9u Research 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Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merc\u00e8","family":"Pineda","sequence":"additional","affiliation":[{"name":"Sant Joan de D\u00e9u Research Foundation Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Rett Working Group","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0588-9307","authenticated-orcid":false,"given":"Judith","family":"Armstrong","sequence":"additional","affiliation":[{"name":"Sant Joan de D\u00e9u Research Institute (IRSJD) Hospital Sant Joan de D\u00e9u Esplugues de Lobregat (Barcelona) Spain"},{"name":"Molecular and Genetics Medicine Section Hospital Sant Joan de D\u00e9u Barcelona Spain"},{"name":"CIBER\u2010ER (Biomedical Network Research Center for Rare Diseases) Instituto de Salud Carlos III Madrid 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