{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T07:43:43Z","timestamp":1790754223994,"version":"4.1.0"},"reference-count":43,"publisher":"Wiley","issue":"23","license":[{"start":{"date-parts":[[2007,10,29]],"date-time":"2007-10-29T00:00:00Z","timestamp":1193616000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rett syndrome is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. <jats:italic>MECP2<\/jats:italic> point mutations in exons 2\u20134 account for about 80% of classic Rett cases and for a lower percentage of variant patients. We investigated the genetic cause in 77 mutation\u2010negative Rett patients (33 classic, 31 variant, and 13 Rett\u2010like cases) by searching missed <jats:italic>MECP2<\/jats:italic> defects. DHPLC analysis of exon 1 and MLPA analysis allowed us to identify the defect in 17 Rett patients: one exon 1 point mutation (c.47_57del) in a classic case and 16 <jats:italic>MECP2<\/jats:italic> large deletions (15\/33 classic and 1\/31 variant cases). One identical intragenic <jats:italic>MECP2<\/jats:italic> deletion, probably due to gonadal mosaicism, was found in two sisters with discordant phenotype: one classic and one \u201chighly functioning\u201d preserved speech variant. This result indicates that other epigenetic or genetic factors, beside <jats:italic>MECP2<\/jats:italic>, may contribute to phenotype modulation. Three out of 16 <jats:italic>MECP2<\/jats:italic> deletions extend to the adjacent centromeric <jats:italic>IRAK1<\/jats:italic> gene. A putative involvement of the hemizygosity of this gene in the ossification process is discussed. Finally, results reported here clearly indicate that <jats:italic>MECP2<\/jats:italic> large deletions are a common cause of classic Rett, and MLPA analysis is mandatory in <jats:italic>MECP2<\/jats:italic>\u2010negative patients, especially in those more severely affected (<jats:italic>P<\/jats:italic>\u2009=\u20090.044). \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32002","type":"journal-article","created":{"date-parts":[[2007,10,29]],"date-time":"2007-10-29T16:22:46Z","timestamp":1193674966000},"page":"2775-2784","source":"Crossref","is-referenced-by-count":45,"title":["<i>MECP2<\/i> deletions and genotype\u2013phenotype correlation in Rett syndrome"],"prefix":"10.1002","volume":"143A","author":[{"given":"Elisa","family":"Scala","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Longo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Ottimo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Speciale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katia","family":"Sampieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleni","family":"Katzaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosangela","family":"Artuso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria 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