ArticleAmerican journal of human genetics1995
Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Tapping-lips aggravated interictal bilateral discharges in EEG in the patients with Rett syndrome: a case report.BMC neurology · 2019Article
- Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?Frontiers in genetics · 2017Article
- Progress in Rett Syndrome: from discovery to clinical trials.Wiener medizinische Wochenschrift (1946) · 2016Article
- Monozygotic twins with Rett syndrome: Phenotyping the first two years of life.Journal of developmental and physical disabilities · 2014Article
- Epigenetic investigation of variably X chromosome inactivated genes in monozygotic female twins discordant for primary biliary cirrhosis.Epigenetics · 2011Article
- Rett syndrome: clinical review and genetic update.Journal of medical genetics · 2005Review
- Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.American journal of human genetics · 2004Article
- Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.American journal of human genetics · 1999Article
- Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.Journal of medical genetics · 1998Article
- Brief report: autistic behaviors among children with fragile X or Rett syndrome: implications for the classification of pervasive developmental disorder.Journal of autism and developmental disorders · 1998Article
- A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.American journal of human genetics · 1997Article
- Monozygotic twins discordant for Aicardi syndrome.Journal of medical genetics · 1997Article
- Rett syndrome.Journal of medical genetics · 1996Review
- High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders.American journal of human genetics · 1996Article
- X chromosome inactivation in 30 girls with Rett syndrome: analysis using the probe.Human genetics · 1996Article
- Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.American journal of human genetics · 1996Article
- Rett syndrome.Indian journal of pediatricsReview
- MicroRNAs and epigenetic regulation in the mammalian inner ear: implications for deafness.Mammalian genome : official journal of the International Mammalian Genome SocietyReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Rett syndrome (RS), a progressive encephalopathy with onset in infancy, has been attributed to an X-linked mutation, mainly on the basis of its occurrence almost exclusively in females and its concordance in female MZ twins. The underlying mechanisms proposed are an X-linked dominant mutation with male lethality, uniparental disomy of the X chromosome, and/or some disturbance in the process of X inactivation leading to unequal distributions of cells expressing maternal or paternal alleles (referred to as a "nonrandom" or "skewed" pattern of X inactivation). To determine if the X chromosome is in fact involved in RS, we studied a group of affected females including three pairs of MZ twins, two concordant for RS and one uniquely discordant for RS. Analysis of X-inactivation patterns confirms the frequent nonrandom X inactivation previously observed in MZ twins but indicates that this is independent of RS. Analysis of 29 RS females reveals not one instance of uniparental X disomy, extending the observations previously reported. Therefore, our findings contribute no support for the hypothesis that RS is an X-linked disorder. Furthermore, the concordant phenotype in most MZ female twins with RS, which has not been observed in female twins with known X-linked mutations, argues against an X mutation.
Indexed as
Identifiers
7887418PMC1801188W1538286159What 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.