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

Homozygous c.1160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Mar 2016

Bhanushali Aparna A, Mandsaurwala A, Das Bibhu R

Abstract excerpt

Rett syndrome is a severe X-linked dominant neurodevelopmental disorder. Mutations in the MECP2 gene on chromosome Xq28 have been shown to be the cause of Rett syndrome. Sequencing of the MECP2 gene in a patient with clinical suspicion of Rett syndrome revealed c.1160C>T (P387L) in exon 4 of the MECP2 gene homozygously. Females with Rett syndrome are usually heterozygous for a mutation in MECP2. Uniparental...

Read the complete abstract on PubMed

Topics

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

Share to MECP2 gene
Share to Genotype
Share to Methyl-CpG-Binding Protein 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Phenotype

Share to Rett Syndrome

Source

Identifiers

PMID: 26755454
DOI: 10.1016/j.jocn.2015.08.040

Genes

MECP2

Variants

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous c.1160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient.PMID 26755454Read ↗

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

Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.Semantic proximity Read ↗

De novo MECP2 mutation in a 46,XX male patient with Rett syndrome.Semantic proximity Read ↗

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

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

A novel mutation in the MECP2 gene in a Korean patient with Rett syndrome.Semantic proximity Read ↗

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

MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.Semantic proximity Read ↗

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.Semantic proximity Read ↗

MECP2 is highly mutated in X-linked mental retardation.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 ↗

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