ArticleAmerican journal of human genetics1994
Molecular analysis and test of linkage between the FMR-1 gene and infantile autism in multiplex families.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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
13 citing papers in PubMed, 62 citations in OpenAlex.
- A Late Phase of Long-Term Synaptic Depression in Cerebellar Purkinje Cells Requires Activation of MEF2.Cell reports · 2019Article
- Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders.Current genetic medicine reports · 2014Article
- Why are autism spectrum conditions more prevalent in males?PLoS biology · 2011Review
- Autism, Alzheimer disease, and fragile X: APP, FMRP, and mGluR5 are molecular links.Neurology · 2011Review
- The LEARn model: an epigenetic explanation for idiopathic neurobiological diseases.Molecular psychiatry · 2009Article
- The genetics of autistic disorders and its clinical relevance: a review of the literature.Molecular psychiatry · 2007Review
- Skewed X inactivation of the normal allele in fully mutated female carriers determines the levels of FMRP in blood and the fragile X phenotype.Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology · 2005Article
- Epstein-Barr virus transformation of human lymphoblastoid cells from patients with fragile X syndrome induces variable changes on CGG repeats size and promoter methylation.Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology · 2003Article
- Birth order effects on nonverbal IQ scores in autism multiplex families.Journal of autism and developmental disorders · 2001Article
- A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p.American journal of human genetics · 2001Article
- Methylation-dependent gene silencing induced by interleukin 1beta via nitric oxide production.The Journal of experimental medicine · 1999Article
- Etiology of infantile autism: a review of recent advances in genetic and neurobiological research.Journal of psychiatry & neuroscience : JPN · 1999Review
- Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree.Journal of medical genetics · 1995Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Approximately 2%-5% of autistic children show cytogenetic evidence of the fragile X syndrome. This report tests whether infantile autism in multiplex autism families arises from an unusual manifestion of the fragile X syndrome. This could arise either by expansion of the (CGG)n trinucleotide repeat in FMR-1 or from a mutation elsewhere in the gene. We studied 35 families that met stringent criteria for multiplex autism. Amplification of the trinucleotide repeat and analysis of methylation status were performed in 79 autistic children and in 31 of their unaffected siblings, by Southern blot analysis. No examples of amplified repeats were seen in the autistic or control children or in their parents or grandparents. We next examined the hypothesis that there was a mutation elsewhere in the FMR-1 gene, by linkage analysis in 32 of these families. We tested four different dominant models and a recessive model. Linkage to FMR-1 could be excluded (lod score between -24 and -62) in all models by using probes DXS548, FRAXAC1, and FRAXAC2 and the CGG repeat itself. Tests for heterogeneity in this sample were negative, and the occurrence of positive lod scores in this data set could be attributed to chance. Analysis of the data by the affected-sib method also did not show evidence for linkage of any marker to autism. These results enable us to reject the hypothesis that multiplex autism arises from expansion of the (CGG)n trinucleotide repeat in FMR-1.(ABSTRACT TRUNCATED AT 250 WORDS)
Indexed as
Identifiers
7977358PMC1918316W1559640886What 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.