ArticleAmerican journal of human genetics1996
PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 37 citations in OpenAlex.
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- Autism Spectrum Disorder and Epilepsy: Pathogenetic Mechanisms and Therapeutic Implications.Journal of clinical medicine · 2025Review
- Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex.Genes · 2024Review
- MECP2-related disorders while gene-based therapies are on the horizon.Frontiers in genetics · 2024Review
- Mental Health, Mitochondria, and the Battle of the Sexes.Biomedicines · 2021Review
- Parkinsonism, Intellectual Disability, and Catatonia in a Young Male WithMovement disorders clinical practice · 2020Article
- Fragility Extraordinaire: Unsolved Mysteries of Chromosome Fragile Sites.Advances in experimental medicine and biology · 2017Review
- Adult Phenotypes in Angelman- and Rett-Like Syndromes.Molecular syndromology · 2012Article
- MECP2 mutations in males.Journal of medical genetics · 2007Review
- A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.American journal of human genetics · 2002Article
- Chromosomal abnormalities and schizophrenia.American journal of medical genetics · 2000Review
- Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.Journal of medical genetics · 1998Article
- A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28.Journal of medical genetics · 1997Article
- Finding genes on the X chromosome by which homo may have become sapiens.American journal of human genetics · 1996Article
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Authors and funding
9 authors.
Funding
Abstract
We report a three-generation family manifesting a previously undescribed X-linked mental retardation syndrome. Four of the six moderately retarded males have had episodes of manic-depressive psychosis. The phenotype also includes pyramidal signs, Parkinsonian features, and macroorchidism, but there are no characteristic dysmorphic facial features. Affected males do not show fragile sites at distal Xq on cytogenetic analysis, nor do they have expansions of the CGG repeats at the FRAXA, FRAXE, or FRAXF loci. Linkage analyses were undertaken, and a maximal LOD score of 3.311 at theta = .0 was observed with the microsatellite marker DXS1123 in Xq28. A recombination was detected in one of the affected males with DXS1691 (Xq28), which gives the proximal boundary of the localization. No distal recombination has been detected at any of the loci tested.
Indexed as
Identifiers
8651288PMC1915053W1494239816What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.