{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,7]],"date-time":"2024-07-07T07:01:32Z","timestamp":1720335692276},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,3,30]],"date-time":"2006-03-30T00:00:00Z","timestamp":1143676800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2006,4]]},"abstract":"<jats:p>Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X\u2010linked <jats:italic>MECP2<\/jats:italic> gene encoding methyl CpG binding protein 2 (MeCP2). Recently, a new isoform of MeCP2 including exon 1 was identified. This new isoform is more abundantly expressed in brain than the isoform including exons 2\u20134. Very little is known about the phenotypes associated with mutations in exon 1 of <jats:italic>MECP2<\/jats:italic> since only a limited number of RTT patients carrying such mutations have been identified so far. In this study, we screened a cohort of 20 girls with RTT for exon 1 mutations by sequencing and multiplex ligation\u2010dependent probe amplification (MLPA). We identified one girl with a novel exon 1 mutation (c.30delCinsGA) by sequencing and three with genomic rearrangements by MLPA. Comparison of the phenotypes showed that the girls carrying a mutation or rearrangement encompassing exon 1 were more severely affected than the girls with rearrangements not affecting exon 1.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2006.00604.x","type":"journal-article","created":{"date-parts":[[2006,3,30]],"date-time":"2006-03-30T09:51:08Z","timestamp":1143712268000},"page":"319-326","source":"Crossref","is-referenced-by-count":13,"title":["Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the <i>MECP2<\/i> 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