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Multiple de novo mutations in the MECP2 gene

Multiple de novo mutations in the MECP2 gene
Multiple de novo mutations in the MECP2 gene
Rett syndrome is an X-linked dominant disorder that usually arises following a single de novo mutation in the MECP2 gene. Point mutation testing and gene dosage analysis of a cohort of British Rett syndrome patients in our laboratory revealed four females who each had two different de novo causative mutations, presumed to be in cis because the patients showed no deviation from the classical Rett syndrome phenotype. Two of these cases had a point mutation and a small intraexonic deletion, a third had a whole exon deletion and a separate small intraexonic deletion, and a fourth case had a small intraexonic deletion and a large duplication. These findings highlight the necessity to perform both point mutation analysis and exon dosage analysis in such cases, particularly because of the possibility of undetected parental mosaicism and the implications for prenatal diagnosis in future pregnancies. These cases also suggest that the MECP2 gene may be particularly prone to multiple mutation events.
female, mosaicism, gene dosage, cohort, phenotype, prenatal diagnosis, pregnancy, mutation, patients, laboratories, syndrome, genetics, diagnosis, analysis, point mutation
1090-6576
373-375
Bunyan, David J.
dd9134b9-f889-44cc-83cc-a41fc5d74d69
Robinson, David O.
9db1b26b-6c2b-4ac5-879e-20f8a2dc30ec
Bunyan, David J.
dd9134b9-f889-44cc-83cc-a41fc5d74d69
Robinson, David O.
9db1b26b-6c2b-4ac5-879e-20f8a2dc30ec

Bunyan, David J. and Robinson, David O. (2008) Multiple de novo mutations in the MECP2 gene. Genetic Testing, 12 (3), 373-375. (doi:10.1089/gte.2008.0012).

Record type: Article

Abstract

Rett syndrome is an X-linked dominant disorder that usually arises following a single de novo mutation in the MECP2 gene. Point mutation testing and gene dosage analysis of a cohort of British Rett syndrome patients in our laboratory revealed four females who each had two different de novo causative mutations, presumed to be in cis because the patients showed no deviation from the classical Rett syndrome phenotype. Two of these cases had a point mutation and a small intraexonic deletion, a third had a whole exon deletion and a separate small intraexonic deletion, and a fourth case had a small intraexonic deletion and a large duplication. These findings highlight the necessity to perform both point mutation analysis and exon dosage analysis in such cases, particularly because of the possibility of undetected parental mosaicism and the implications for prenatal diagnosis in future pregnancies. These cases also suggest that the MECP2 gene may be particularly prone to multiple mutation events.

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More information

Published date: 1 September 2008
Keywords: female, mosaicism, gene dosage, cohort, phenotype, prenatal diagnosis, pregnancy, mutation, patients, laboratories, syndrome, genetics, diagnosis, analysis, point mutation

Identifiers

Local EPrints ID: 59539
URI: https://eprints.soton.ac.uk/id/eprint/59539
ISSN: 1090-6576
PURE UUID: cbeaf6c4-e7cc-43e7-8dac-e670a770da5b

Catalogue record

Date deposited: 13 Nov 2008
Last modified: 13 Mar 2019 20:30

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Contributors

Author: David J. Bunyan
Author: David O. Robinson

University divisions

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