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Wiley, Human Mutation: Variation, Informatics and Disease, 3(18), p. 251-252, 2001

DOI: 10.1002/humu.1182

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Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy: Mutations in Brief

Journal article published in 2001 by Thierry Bienvenu, Isabelle Souville, Karine Poirier, Cécile Aquaviva, Lydie Burglen, Jeanne Amiel ORCID, Bénédicte Héron, Anna Kaminska, Philippe Couvert, Cherif Beldjord, Jamel Chelly
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Rett syndrome (RTT) is a severe progressive neurological disorder that affects almost exclusively females. The gene responsible for this disorder, MECP2, was recently identified by candidate gene strategy. Mutations were detected in 70-85% of RTT cases. We report here five novel frameshift mutations (named 345delC, 895del202, 989ins18del8, 996insAG and 1124del53) in exon 3 and 4 of the MECP2 gene. To avoid the missing of few small deletions in RTT patients using classical mutation screening approaches, we suggest that screening of the mutations in the MECP2 gene in RTT girls should include at least a large PCR to amplify exon 4 entirely. Hum Mutat 18:251–252, 2001. © 2001 Wiley-Liss, Inc.