Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene

Clinical Genetics
D BartholdiG Mátyás

Abstract

Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked MECP2 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 2-4. Very little is known about the phenotypes associated with mutations in exon 1 of MECP2 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-dependent 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.

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Citations

Nov 8, 2006·Journal of Human Genetics·Mei-Rong LiXi-Ru Wu
Aug 11, 2011·European Journal of Human Genetics : EJHG·Bredford KerrJuan I Young
Mar 13, 2014·Neuromolecular Medicine·Vichithra R B Liyanage, Mojgan Rastegar
Apr 15, 2009·American Journal of Medical Genetics. Part a·Carol J SaundersJohn B Vincent
Nov 15, 2006·Clinical Genetics·Y ChunshuT Kubota
Jul 3, 2013·The Journal of Molecular Diagnostics : JMD·Hiart MaortuaMaría-Isabel Tejada
Oct 31, 2007·American Journal of Medical Genetics. Part a·Elisa ScalaFrancesca Ariani
Aug 5, 2015·Revista chilena de pediatría·Gretta Pantaleón F, Tamara Juvier R
Jul 18, 2018·Journal of Autism and Developmental Disorders·L BellD J Hare

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