Chromosomal abnormalities and mental illness

Linkage studies of mental illness have provided suggestive evidence of susceptibility loci over many broad chromosomal regions. Pinpointing causative gene mutations by conventional linkage strategies alone is problematic. The breakpoints of chromosomal abnormalities occurring in patients with mental...

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Published inMolecular psychiatry Vol. 8; no. 3; pp. 275 - 287
Main Authors MacIntyre, D J, Blackwood, D H R, Porteous, D J, Pickard, B S, Muir, W J
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 01.03.2003
Nature Publishing Group
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Abstract Linkage studies of mental illness have provided suggestive evidence of susceptibility loci over many broad chromosomal regions. Pinpointing causative gene mutations by conventional linkage strategies alone is problematic. The breakpoints of chromosomal abnormalities occurring in patients with mental illness may be more direct pointers to the relevant gene locus. Publications that describe patients where chromosomal abnormalities co-exist with mental illness are reviewed along with supporting evidence that this may amount to an association. Chromosomal abnormalities are considered to be of possible significance if (a) the abnormality is rare and there are independent reports of its coexistence with psychiatric illness, or (b) there is colocalisation of the abnormality with a region of suggestive linkage findings, or (c) there is an apparent cosegregation of the abnormality with psychiatric illness within the individual's family. Breakpoints have been described within many of the loci suggested by linkage studies and these findings support the hypothesis that shared susceptibility factors for schizophrenia and bipolar disorder may exist. If these abnormalities directly disrupt coding regions, then combining molecular genetic breakpoint cloning with bioinformatic sequence analysis may be a method of rapidly identifying candidate genes. Full karyotyping of individuals with psychotic illness especially where this coexists with mild learning disability, dysmorphism or a strong family history of mental disorder is encouraged.
AbstractList Linkage studies of mental illness have provided suggestive evidence of susceptibility loci over many broad chromosomal regions. Pinpointing causative gene mutations by conventional linkage strategies alone is problematic. The breakpoints of chromosomal abnormalities occurring in patients with mental illness may be more direct pointers to the relevant gene locus. Publications that describe patients where chromosomal abnormalities co-exist with mental illness are reviewed along with supporting evidence that this may amount to an association. Chromosomal abnormalities are considered to be of possible significance if (a) the abnormality is rare and there are independent reports of its coexistence with psychiatric illness, or (b) there is colocalisation of the abnormality with a region of suggestive linkage findings, or (c) there is an apparent cosegregation of the abnormality with psychiatric illness within the individual's family. Breakpoints have been described within many of the loci suggested by linkage studies and these findings support the hypothesis that shared susceptibility factors for schizophrenia and bipolar disorder may exist. If these abnormalities directly disrupt coding regions, then combining molecular genetic breakpoint cloning with bioinformatic sequence analysis may be a method of rapidly identifying candidate genes. Full karyotyping of individuals with psychotic illness especially where this coexists with mild learning disability, dysmorphism or a strong family history of mental disorder is encouraged.
Audience Academic
Author MacIntyre, D J
Blackwood, D H R
Porteous, D J
Pickard, B S
Muir, W J
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  surname: MacIntyre
  fullname: MacIntyre, D J
  organization: Department of Psychiatry, University of Edinburgh
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  givenname: D H R
  surname: Blackwood
  fullname: Blackwood, D H R
  organization: Department of Psychiatry, University of Edinburgh, Department of Medical Sciences, University of Edinburgh
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  givenname: D J
  surname: Porteous
  fullname: Porteous, D J
  organization: Department of Medical Sciences, University of Edinburgh
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  givenname: B S
  surname: Pickard
  fullname: Pickard, B S
  organization: Department of Psychiatry, University of Edinburgh, Department of Medical Sciences, University of Edinburgh
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  givenname: W J
  surname: Muir
  fullname: Muir, W J
  email: walter.muir@ed.ac.uk
  organization: Department of Psychiatry, University of Edinburgh, Department of Medical Sciences, University of Edinburgh
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Issue 3
Keywords mental retardation
learning disability
bipolar disorder
schizophrenia
linkage
chromosomes
Mood disorder
Chromosomal aberration
Human
Linkage
Mental health
Schizophrenia
Chromosome
Exploration
Bipolar disorder
Developmental disorder
Mental retardation
Psychosis
Learning disability
Intellectual deficiency
Anomaly
Diagnosis
Language English
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Snippet Linkage studies of mental illness have provided suggestive evidence of susceptibility loci over many broad chromosomal regions. Pinpointing causative gene...
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pascalfrancis
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StartPage 275
SubjectTerms Adult and adolescent clinical studies
Behavioral Sciences
Biological and medical sciences
Biological Psychology
Bipolar disorder
Bipolar Disorder - genetics
Breakpoints
Chromosome Aberrations
Chromosomes
Cloning
Coexistence
feature-article
Genes
Genetic analysis
Genetic Linkage
Genomes
Humans
Hypotheses
Intellectual disabilities
Intellectual Disability - genetics
Learning disabilities
Medical genetics
Medical sciences
Medicine
Medicine & Public Health
Mental disorders
Miscellaneous
Mutation
Neurosciences
Pharmacotherapy
Psychiatry
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
Schizophrenia
Schizophrenia - genetics
Sequence analysis
Susceptibility
Title Chromosomal abnormalities and mental illness
URI http://dx.doi.org/10.1038/sj.mp.4001232
https://link.springer.com/article/10.1038/sj.mp.4001232
https://www.ncbi.nlm.nih.gov/pubmed/12660800
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Volume 8
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