ArticleJournal of human genetics2007
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
Article in Journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 47 citations in OpenAlex.
- Identification of aFrontiers in molecular neuroscience · 2022Article
- Detection of Rare Methyl-CpG Binding Protein 2 Gene Missense Mutations in Patients With Schizophrenia.Frontiers in genetics · 2020Article
- Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome.Journal of autism and developmental disorders · 2020Article
- Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy.Epilepsia open · 2019Article
- IQSEC2 and X-linked syndromal intellectual disability.Psychiatric genetics · 2016Article
- The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.Molecular cytogenetics · 2016Article
- The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.Autism research : official journal of the International Society for Autism Research · 2012Article
- Induced pluripotent stem cells to model and treat neurogenetic disorders.Neural plasticity · 2012Review
- Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.Neurogenetics · 2009Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rett syndrome (RTT) is a progressive neurodevelopmental disorder that is caused by mutations in the X-linked methyl-CpG-binding protein2 (MECP2) gene. In this study, the MECP2 sequences in 121 unrelated Chinese patients with classical or atypical RTT were screened for deletions and mutations. In all, we identified 45 different MECP2 mutations in 102 of these RTT patients. The p. T158M mutation (15.7%) was the most common, followed in order of frequency by p. R168X (11.8%), p. R133C (6.9%), p. R270X (6.9%), p. G269fs (6.9%), p. R255X (4.9%), and p. R306C (3.9%). In addition, we identified five novel MECP2 mutations: three missense (p. K305E, p. V122M, p. A358T), one insertion (c.45-46insGGAGGA), and one 22 bp deletion (c.881-902del22). Large deletions represented 10.5% of all identified MECP2 mutations. Conversely, mutations in exon 1 appeared to be rare (0.9%). The remaining cases without MECP2 mutations were screened for the cyclin-dependent kinase-like 5 (CDKL5) gene using denaturing high-performance liquid chromatography (DHPLC). One synonymous mutation (p. I72I) was found in exon 5, suggesting that CDKL5 is a rare cause of RTT. The overall MECP2 mutation detection rate for this patient series was 84.3:87.9% in 107 classical RTT cases and 57.1% in 14 atypical RTT cases. Moreover, there were two patients with homozygous mutations and normal female karyotypes. However, we did not pinpoint a significant relationship between genotype and phenotype in these cases.
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