{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,17]],"date-time":"2025-11-17T21:37:41Z","timestamp":1763415461845,"version":"3.40.5"},"reference-count":0,"publisher":"Sociedad Chilena de Pediatria","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev Chil Pediatr"],"abstract":"<jats:p>Introducci\u00f3n: El s\u00edndrome de Rett (RTT) es un trastorno neurol\u00f3gico progresivo caracterizado por producir una regresi\u00f3n del desarrollo psicomotor en ni\u00f1as previamente sanas. La mayor\u00eda de los casos son causados por variantes patog\u00e9nicas en el gen MECP2, que codifica para la prote\u00edna methyl CpGbinding protein 2.Objetivo: Describir la frecuencia y el tipo de variantes patog\u00e9nicas en MECP2 en mujeres chilenas con diagn\u00f3stico cl\u00ednico de RTT.Pacientes y M\u00e9todo: Se invit\u00f3 a participar en este estudio a mujeres chilenas con sospecha cl\u00ednica de RTT. Se reuni\u00f3 informaci\u00f3n cl\u00ednica mediante un cuestionario. Se analizaron variantes patog\u00e9nicas en MECP2 mediante el m\u00e9todo de secuenciaci\u00f3n de Sanger y se utiliz\u00f3 Multiple Ligation-dependant Probe Amplification (MLPA) para la detecci\u00f3n de duplicaciones y deleciones.Resultado: El estudio incluy\u00f3 14 pacientes con sospecha de RTT, de las cuales 8 (57%) pacientes tuvieron variantes patog\u00e9nicas. Las restantes permanecen sin diagn\u00f3stico molecular.Conclusi\u00f3n: Variantes patog\u00e9nicas en MECP2 est\u00e1n presentes en pacientes chilenas con RTT. Es probable que haya otros genes o diagn\u00f3sticos involucrados en las pacientes sin hallazgos en MECP2. A partir de este trabajo, el diagn\u00f3stico molecular est\u00e1 disponible en Chile.<\/jats:p>","DOI":"10.32641\/rchped.v90i2.724","type":"journal-article","created":{"date-parts":[[2019,5,7]],"date-time":"2019-05-07T19:36:55Z","timestamp":1557257815000},"page":"152","source":"Crossref","is-referenced-by-count":2,"title":["S\u00edndrome de Rett: an\u00e1lisis molecular del gen MECP2 en pacientes chilenas"],"prefix":"10.32641","volume":"90","author":[{"given":"Carolina","family":"Aron W.","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geraldinne","family":"Rauch L.","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felipe","family":"Benavides G.","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0120-5684","authenticated-orcid":false,"given":"M. Gabriela","family":"Repetto L.","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"17639","published-online":{"date-parts":[[2019,4,10]]},"container-title":["Revista Chilena de Pediatr\u00eda"],"original-title":[],"link":[{"URL":"http:\/\/www.revistachilenadepediatria.cl\/index.php\/rchped\/article\/viewFile\/724\/1142","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.revistachilenadepediatria.cl\/index.php\/rchped\/article\/viewFile\/724\/1142","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,12]],"date-time":"2021-04-12T18:27:41Z","timestamp":1618252061000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.revistachilenadepediatria.cl\/index.php\/rchped\/article\/view\/724"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4,10]]},"references-count":0,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2019,4,10]]}},"URL":"https:\/\/doi.org\/10.32641\/rchped.v90i2.724","relation":{},"ISSN":["0370-4106","0370-4106"],"issn-type":[{"type":"electronic","value":"0370-4106"},{"type":"print","value":"0370-4106"}],"subject":[],"published":{"date-parts":[[2019,4,10]]}}}