The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.
MECP2 mutations account for most cases of typical forms of Rett syndrome
Abstract
Rett syndrome (RTT) is a severe progressive neurological disorder that affects almost exclusively females, with an estimated prevalence of approximately one in 10 000-15 000 female births. Most cases are sporadic, but several reports about familial recurrence support X-linked dominant inheritance with male lethality. The gene responsible for this disorder, MECP2, was recently identified by candidate gene strategy. Mutations were detected in <25% of RTT cases in this first report. To characterize the spectrum of mutations in the MECP2 gene in RTT patients, we selected 46 typical RTT patients and performed mutation screening by denaturing gradient gel electrophoresis combined with direct sequencing. We identified 30 mutations, accounting for 65% of RTT patients. They include 12 novel mutations (11 located in exon 3 and one in exon 2). Mutations, such as R270X and frameshift deletions in a (CCACC) (n) rich region, have been found with multiple recurrences. Most of the mutations were de novo, except in one family where the non-affected transmitter mother exhibited a bias of X inactivation. Although this study showed that MECP2 mutations account for most cases of typical forms of RTT (65%) and mutations in non-coding regions cannot be excluded for the remaining cases, an alternative hypothesis that takes into account the homogeneous phenotype and exclusive involvement of females, could be the implication in RTT of a putative second X-linked gene.
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Cites
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
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Cited by
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
Guy, J., Hendrich, B., Holmes, M., Martin, J. E., & Bird, A. (2001) · Nature Genetics · doi:10.1038/85899 · Cited by 1,558
Postnatal neurodevelopmental disorders: meeting at the synapse?
Zoghbi, H. Y. (2003) · Science · doi:10.1126/science.1089071 · Cited by 691
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
Collins, A. L., Levenson, J. M., Vilaythong, A. P., Richman, R., Armstrong, D. L., Noebels, J. L., David Sweatt, J., & Zoghbi, H. Y. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh282 · Cited by 626
Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome
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Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification
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Metadata
- Authors
- Bienvenu, T.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2000-05-22
- Volume
- 9
- Issue
- 9
- Pages
- 1377-1384
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2132165212
- Cited by
- 305
- References
- 14
- FWCI
- 19.29
- Type
- journal article
- Language
- en
- Open access
- closed
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