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 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.

Brain & development - 1 Jan 2007

Dayer Alexandre G, Bottani Armand, Bouchardy Isabelle, Fluss Joel, Antonarakis Stylianos E, Haenggeli Charles-Antoine, Morris Michael A

Abstract excerpt

Rett syndrome is a severe neurodevelopmental disorder affecting principally females and characterized by a normal postnatal development followed by stagnation and regression of acquired skills. We report a 4-year-old boy with a Rett syndrome phenotype and his unaffected mother both carrying a 44 bp truncating deletion mutation (c.1158del44 or p.388X) in the MECP2 gene. The presence of a skewed X inactivation in...

Read the complete abstract on PubMed

Topics

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

Share to Gene Deletion
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Inheritance Patterns

Share to Methyl-CpG-Binding Protein 2

Share to Mothers

Share to Penetrance

Share to Rett Syndrome

Share to X Chromosome Inactivation

Source

Identifiers

PMID: 16844334
DOI: 10.1016/j.braindev.2006.06.001

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.PMID 16844334Read ↗

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

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.Semantic proximity Read ↗

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.Semantic proximity Read ↗

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.Semantic proximity Read ↗

Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male.Semantic proximity Read ↗

Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.Semantic proximity Read ↗

Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).Semantic proximity Read ↗

MECP2 mutations in males.Semantic proximity Read ↗

The spectrum of phenotypes in females with Rett Syndrome.Semantic proximity Read ↗

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

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males.Semantic proximity Read ↗

MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.Semantic proximity Read ↗

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