ArticleMolecular genetics & genomic medicine2019
Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- Article
- Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.NPJ genomic medicine · 2025Article
- Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis.Frontiers in genetics · 2024Article
- Review
- Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.Molecular genetics & genomic medicine · 2019Article
- Ten novel insertion/deletion variants inHuman genome variation · 2019Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRett syndrome (RTT) is a developmental disorder with an early onset and X-linked dominant inheritance pattern. It is first recognized in infancy and is seen almost always in girls, but it may be seen in boys on rare occasions. Typical RTT is caused by de novo mutations of the gene MECP2 (OMIM*300005), and atypical forms of RTT can be caused by mutations of the CDKL5 (OMIM*300203) and FOXG1 (OMIM*164874) genes.
methodsApproximately 5% of the mutations detected in MECP2 are large rearrangements that range from exons to the entire gene. Here, we have characterized the deletions detected by multiplex ligation-dependent probe amplification (MLPA) in the gene MECP2 of 21 RTT patients. Breakpoints were delineated by DNA-qPCR until the amplification of the deleted allele by long-PCR was possible.
resultsThis methodology enabled us to characterize deletions ranging from 1,235 bp to 85 kb, confirming the partial or total deletion of the MECP2 gene in all these patients. Additionally, our cases support the evidence claiming that most of these breakpoints occur in some restricted regions of the MECP2 gene.
conclusionThese molecular data together with the clinical information enable us to propose a genotype-phenotype correlation, which is essential for providing genetic counseling.
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