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Cited by 1,024Schizophrenia research and treatmentGenomic variations and chromosomal abnormalitiesMental Health and Psychiatry

High rates of schizophrenia in adults with velo-cardio-facial syndrome

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Murphy, Kieran C., Jones, Lisa A., Owen, Michael J.·1999·Archives of General Psychiatry
DOI 10.1001/archpsyc.56.10.940
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Abstract

BACKGROUND: Velo-cardio-facial syndrome (VCFS), a syndrome characterized by an increased frequency of schizophrenia and bipolar disorder, is associated with small interstitial deletions of chromosome 22q11. METHODS: We evaluated 50 adults with VCFS using a structured clinical interview (Schedules for Clinical Assessment in Neuropsychiatry or Psychiatric Assessment Schedule for Adults With Developmental Disability if IQ <50) to establish a DSM-IV diagnosis. The schizophrenia phenotype in individuals with VCFS and schizophrenia was compared with a matched series of individuals with schizophrenia and without VCFS (n = 12). The King's Schizotypy Questionnaire was administered to individuals with VCFS (n = 41), their first-degree relatives (n = 68), and a series of unrelated normal controls (n = 316). All individuals with VCFS deleted for the N25 probe (n = 48) were genotyped for a genetic polymorphism in the COMT gene that results in variations in enzymatic activity. RESULTS: Fifteen individuals with VCFS (30%) had a psychotic disorder, with 24% (n = 12) fulfilling DSM-IV criteria for schizophrenia. In addition, 6 (12%) had major depression without psychotic features. The individuals with schizophrenia had fewer negative symptoms and a relatively later age of onset compared with those with schizophrenia and without VCFS. We found no evidence that possession of the low-activity COMT allele was associated with schizophrenia in our sample of individuals with VCFS. CONCLUSIONS: The high prevalence of schizophrenia in this group suggests that chromosome 22q11 might harbor a gene or genes relevant to the etiology of schizophrenia in the wider population.

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  • Large cytogenetically detectable chromosomal abnormalities, including maternal 15q11-13 duplication and 22q11.2 microdeletion, occur recurrently in small proportions of idiopathic autism and schizophrenia, respectively.

    “In addition, large cytogenetically-detectable chromosomal abnormalities, including maternally inherited duplication of chromosome 15q11-13 and microdeletions of 22q11.2, were also known to occur recurrently in a small proportion of idiopathic autism cases (Gillberg, 1998) and in schizophrenia (Murphy et al., 1999) respectively.”

    From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Murphy et al., 1999

  • Up to one in four 22q11DS patients develop psychosis, corresponding to about a 20-fold increased risk, and this accounts for 1-2% of schizophrenia cases.

    “Up to one in four 22q11.2DS patients develop psychosis, which correspond to a ~20–fold increase in risk, and accounts for 1–2% of all schizophrenia cases4–6.”

    From Neuronal defects in a human cellular model of 22q11.2 deletion syndrome (2020) · cites this paper as [4]

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Research works printed but not linked: 7

  1. Grossman MH, Emanuel BS, Budarf ML. Chromosomal mapping of the human cat- echol-O-methyl transferase gene to 22q11.1-q112. Genomics. 1992;12:822-825.
  2. Murphy KC, Jones RG, Griffiths E, Thompson PW, Owen MJ. Chromosome 22q11 deletions: an under-recognised cause of idiopathic learning disability. Br J Psy- chiatry. 1998;172:180-183.
  3. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. Washington, DC: American Psychiatric Association; 1994.
  4. Fraser W, Nolan M. Psychiatric disorders in mental retardation. In: Bouras N, ed. Mental Health in Mental Retardation. Cambridge, England: Cambridge Uni- versity Press; 1994:79-92.
  5. Bassett AS, Hodgkinson K, Chow EWC, Correia S, Scutt LE, Weksberg R: 22q11 deletion syndrome in adults with schizophrenia. Am J Med Genet. 1998;81: 328-337.
  6. Schizophrenia Collaborative Linkage Group. A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizo- phrenia at chromosome 22q12. Am J Med Genet. 1996;67:40-45.
  7. Shaw SH, Kelly M, Smith AB, Shields G, Hopkins P J, Loftus J, Laval SH, Vita A, DeHert M, Cardon LR, Crow TJ, Sherrington R, DeLisi LE. A genome-wide search for schizophrenia susceptibility genes. Am J Med Genet. 1998;81:364-376.

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Authors
Murphy, K. C., Jones, L. A., & Owen, M. J.
Affiliations
University of Wales (GB)
Corresponding author
Murphy, Kieran C.
ORCID
Venue
Archives of General Psychiatry
Publisher
American Medical Association (AMA)
Published
1999-10-01
Volume
56
Issue
10
Pages
940
ISSN
0003-990X (ISSN-L)
DOI
10.1001/archpsyc.56.10.940
OpenAlex
W2158370744
Cited by
1,024
References
37
Citations by year
2026: 6 · 2025: 14 · 2024: 20 · 2023: 26 · 2022: 16 · 2021: 20 · 2020: 27 · 2019: 36 · 2018: 28 · 2017: 42 · 2016: 42 · 2015: 52 · 2014: 50 · 2013: 53 · 2012: 55
FWCI
19.24
Type
journal article
Language
en
Open access
Locations
  • Archives of General Psychiatry (publishedVersion)
  • PubMed (publishedVersion)
  • ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
Topics
  • Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Social Sciences › Arts and Humanities › Philosophy › Mental Health and Psychiatry
Keywords
22q11.2 deletion syndrome, chromosome 22q11 deletion, schizophrenia, bipolar disorder, psychosis, schizotypy, COMT gene polymorphism, negative symptoms, age of onset, major depressive disorder
MeSH terms
Adolescent, Adult, Chromosome Deletion, Chromosomes, Human, Pair 22, DiGeorge Syndrome, Female, Genotype, Humans, Male, Intellectual Disability, Middle Aged, Polymorphism, Genetic, Psychiatric Status Rating Scales, Psychotic Disorders, Schizophrenia, Schizophrenic Psychology, Comorbidity, Prevalence

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