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

A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

American journal of human genetics - 1 Apr 2002

Klauck Sabine M, Lindsay Susan, Beyer Kim S, Splitt Miranda, Burn John, Poustka Annemarie

Abstract excerpt

We report here the genetic cause of the X-linked syndrome of psychosis, pyramidal signs, and macro-orchidism (PPM-X) in a three-generation family manifesting the disorder as a mutation in the methyl-CpG binding-protein 2 (MECP2) gene in Xq28. The A140V mutation was found in all affected males and all carrier females in the family. To date, descriptions have been published of two patients with independent familial...

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 Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Methyl-CpG-Binding Protein 2

Share to Psychotic Disorders

Share to Repressor Proteins

Share to Syndrome

Share to X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 11885030
DOI: 10.1086/339553
PMCID: PMC379098

Genes

MECP2

Variants

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 · 10 closest

A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.PMID 11885030Read ↗

Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.Semantic proximity Read ↗

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?Semantic proximity Read ↗

The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males.Semantic proximity Read ↗

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

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

MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.Semantic proximity Read ↗

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.Semantic proximity Read ↗

A Rett syndrome MECP2 mutation that causes mental retardation in men.Semantic proximity Read ↗

MECP2 duplication syndrome in both genders.Semantic proximity Read ↗

Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.Semantic proximity Read ↗

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