Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.

American journal of human genetics - 1 May 2001

Trappe R, Laccone F, Cobilanschi J, Meins M, Huppke P, Hanefeld F, Engel W

Abstract excerpt

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that apparently is lethal in male embryos. RTT almost exclusively affects female offspring and, in 99.5% of all cases, is sporadic and due to de novo mutations in the MECP2 gene. Familial cases of RTT are rare and are due to X-chromosomal inheritance from a carrier mother. We analyzed the parental origin of MECP2 mutations in sporadic cases of RTT, by...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomal Proteins, Non-Histone
Share to Genetic Counseling

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Maternal Age

Share to Methyl-CpG-Binding Protein 2

Share to Paternal Age

Share to Rett Syndrome

Share to Sex Distribution

Share to X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 11309679
DOI: 10.1086/320109
PMCID: PMC1226090

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.PMID 11309679Read ↗

[Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in fifteen sporadic cases with Rett syndrome].Semantic proximity Read ↗

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?Semantic proximity Read ↗

Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China.Semantic proximity Read ↗

Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.Semantic proximity Read ↗

MECP2 mutations account for most cases of typical forms of Rett syndrome.Semantic proximity Read ↗

The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome.Semantic proximity Read ↗

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.Semantic proximity Read ↗

Rethinking the fate of males with mutations in the gene that causes Rett syndrome.Semantic proximity Read ↗

[Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome].Semantic proximity Read ↗

Molecular characteristics of Chinese patients with Rett syndrome.Semantic proximity Read ↗

Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.Semantic proximity Read ↗

Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.