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

Topics Community

Article

Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis.

BMC medical genetics - 11 May 2020

Gu Yi, Xiang Bingwu, Zhu Lina, Ma Xiuwei, Chen Xiang, Cai Tao

Abstract excerpt

BACKGROUND: To date, at least 746 genes have been identified to cause intellectual disability (ID). Among them, mutations in the Methyl CpG binding protein 2 (MECP2) gene are the leading cause of Rett syndrome and associated ID. METHODS: Considering the large number of ID-associated genes, we applied trio-based whole-exome sequencing (trio-WES) and in silico analysis for genetic diagnosis of 294 children with ID....

Topics

Child
Child, Preschool
Female
Genetic Predisposition to Disease
Heterozygote
Humans
Intellectual Disability
Methyl-CpG-Binding Protein 2
Microcephaly
Mutation
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Rett Syndrome

Exome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 32393352
DOI: 10.1186/s12881-020-01042-w
PMCID: PMC7216709

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis.PMID 32393352Read ↗

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.Semantic proximity Read ↗

A RETT SYNDROME CASE WITH NOVEL NON-IDENTICAL MUTATION IN MECP2 GENE.Semantic proximity Read ↗

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.Semantic proximity Read ↗

MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort.Semantic proximity Read ↗

Two novel mutations in the MECP2 gene in patients with Rett syndrome.Semantic proximity Read ↗

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.Semantic proximity Read ↗

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.Semantic proximity Read ↗

Distinct de novo deletions in a brother-sister pair with RTT: a case report.Semantic proximity Read ↗

First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation.Semantic proximity Read ↗

Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability.Semantic proximity Read ↗

MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.Semantic proximity Read ↗

Spectrum of MECP2 mutations in Rett syndrome.Semantic proximity Read ↗

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