Bipolar Disorder Associated With Klinefelter's Syndrome and Other Chromosomal Abnormalities

Everman, David B.; Stoudemire, Alan

doi:10.1016/s0033-3182(94)71805-3

Cited by 10 publications

(8 citation statements)

References 33 publications

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“…For the set of neurogenetic sister-disorders analyzed here, the clearest overall pattern is that one of the pairs has been commonly associated with autism spectrum conditions (Table 2), a finding that concurs with the results of recent studies showing that a notable proportion of cases of autism can be ascribed to the effects of copy-number variants (Sebat et al 2007;Christian et al 2008;Marshall et al 2008;Mefford et al 2008;Miller et al 2008). In contrast, the sister-disorders of the autism-associated conditions noted in Table 2 appear to involve a suite of phenotypic traits that are characteristic of what has been termed the schizophrenia spectrum or psychotic spectrum, which is exemplified by the set of psychological and psychiatric conditions described for VCFS by Gothelf (2007, (Mizukami et al 1989;Everman and Stoudemire 1994;DeLisi et al 2005;van Rijn et al 2005van Rijn et al , 2006Boks et al 2007); these conditions include schizophrenia, schizoaffective disorder, bipolar disorder, unipolar depression, schizotypy, phobias, generalized anxiety disorder, panic disorders, and psychotic symptoms. The former five conditions have been demonstrated to exhibit strong patterns of overlap with regard to their genetic underpinnings (Craddock and Forty 2006;Potash 2006;Van Den Bogaert et al 2006;Blackwood et al 2007;Fanous et al 2007), and rates of comorbidity of anxiety and phobias with schizophrenia, schizoaffective disorder, and bipolar disorder are on the order of 40-60% (Cosoff and Hafner 1998;Huppert and Smith 2005;Zutshi et al 2006).…”

Section: Discussionsupporting

confidence: 87%

“…1989; DeLisi et al. 1994, 2005; Everman and Stoudemire 1994; van Rijn et al. 2005, 2006; Boks et al.…”

Section: Resultsmentioning

confidence: 99%

“…In contrast, the sister‐disorders of the autism‐associated conditions noted in Table 2 appear to involve a suite of phenotypic traits that are characteristic of what has been termed the schizophrenia spectrum or psychotic spectrum, which is exemplified by the set of psychological and psychiatric conditions described for VCFS by Gothelf (2007, Table 2), as well as for Klinefelter syndrome (Mizukami et al. 1989; Everman and Stoudemire 1994; DeLisi et al. 2005; van Rijn et al.…”

Section: Discussionmentioning

confidence: 99%

“…Psychiatric conditions associated with Klinefelter syndrome include anxiety, depression, bipolar disorder, schizoaffective disorder and schizophrenia (Mizukami et al 1989;DeLisi et al 1994DeLisi et al , 2005Everman and Stoudemire 1994;van Rijn et al 2005van Rijn et al , 2006Boks et al 2007). Several studies have demonstrated that schizophrenia in particular shows a high prevalence in Klinefelter syndrome, with a four-to 10-fold increase (DeLisi et al 1994(DeLisi et al , 2005van Rijn et al 2006).…”

Section: Klinefelter Syndrome (47xxy)mentioning

confidence: 99%

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ORIGINAL ARTICLE: Genomic sister‐disorders of neurodevelopment: an evolutionary approach

Crespi

Summers

Dorus

2009

Evolutionary Applications

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Genomic sister-disorders are defined here as diseases mediated by duplications versus deletions of the same region. Such disorders can provide unique information concerning the genomic underpinnings of human neurodevelopment because effects of diametric variation in gene copy number on cognitive and behavioral phenotypes can be inferred. We describe evidence from the literature on deletions versus duplications for the regions underlying the best-known human neurogenetic sister-disorders, including Williams syndrome, Velocardiofacial syndrome, and Smith–Magenis syndrome, as well as the X-chromosomal conditions Klinefelter and Turner syndromes. These data suggest that diametric copy-number alterations can, like diametric alterations to imprinted genes, generate contrasting phenotypes associated with autistic-spectrum and psychotic-spectrum conditions. Genomically based perturbations to the development of the human social brain are thus apparently mediated to a notable degree by effects of variation in gene copy number. We also conducted the first analyses of positive selection for genes in the regions affected by these disorders. We found evidence consistent with adaptive evolution of protein-coding genes, or selective sweeps, for three of the four sets of sister-syndromes analyzed. These studies of selection facilitate identification of candidate genes for the phenotypes observed and lend a novel evolutionary dimension to the analysis of human cognitive architecture and neurogenetic disorders.

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Section: Discussionsupporting

confidence: 87%

“…1989; DeLisi et al. 1994, 2005; Everman and Stoudemire 1994; van Rijn et al. 2005, 2006; Boks et al.…”

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Klinefelter Syndrome (47xxy)mentioning

confidence: 99%

See 2 more Smart Citations

ORIGINAL ARTICLE: Genomic sister‐disorders of neurodevelopment: an evolutionary approach

Crespi

Summers

Dorus

2009

Evolutionary Applications

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“…35,36 The prevalence of bipolar psychiatric disorders may be increased. 37 A relationship seems to exist with certain neoplasias, although again robust data and population-based studies are not available. Breast cancer in particular appears markedly increased in older 47,XXY men, compared to XY men.…”

Section: Adult-onset Disordersmentioning

confidence: 97%

Klinefelter syndrome: Expanding the phenotype and identifying new research directions

Simpson

Cruz

Swerdloff

et al. 2003

Genetics in Medicine

175

160

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Analysis of the pseudoautosomal X-linked geneSYBL1in bipolar affective disorder: Description of a new candidate allele for psychiatric disorders

et al. 2000

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The absence of father-to-son transmission has been observed in a subset of families with bipolar disorder (BPD), suggestive of a susceptibility gene on the sex-linked portion of the X chromosome. This is supported by some genetic linkage studies that have provided evidence for a susceptibility locus near Xq28. We have analyzed one candidate gene on Xq28, SYBL1, which maps to the Xq pseudoautosomal region (PAR). SYBL1 encodes a member of the synaptobrevin family of proteins that is involved in synaptic vesicle docking and membrane transport. Genes in the PAR generally escape X-chromosome inactivation and have an active homolog on the Y chromosome, which would result in an increase in same-sex concordance in paternal transmitted traits. However, SYBL1 is neither expressed on the Y chromosome nor the inactive X chromosome and would therefore be expected to show typical sex-linked transmission. We have screened SYBL1 for mutations that could be tested as candidate alleles in the development of BPD. Following single-strand conformation polymorphism (SSCP) analysis and DNA sequencing, four single nucleotide polymorphisms were detected: a silent mutation at codon 108, two intron mutations without any obvious biological significance, and a G-->C transversion in the polypyrimidine tract at the 3' splice acceptor site preceding exon 8. This polymorphism, which creates a perfect 16/16 stretch of pyrimidines, was analyzed in 110 patients with BPD not selected for sex-linked transmission and 119 control subjects. The results show a statistical trend toward an increase in the frequency of the C allele in males with BPD but not females. Males: chi(2) = 3.46, 1 df, p =.06; Females: chi(2) =.20, 1 df, p =.66.

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Bipolar Disorder Associated With Klinefelter's Syndrome and Other Chromosomal Abnormalities

Cited by 10 publications

References 33 publications

ORIGINAL ARTICLE: Genomic sister‐disorders of neurodevelopment: an evolutionary approach

ORIGINAL ARTICLE: Genomic sister‐disorders of neurodevelopment: an evolutionary approach

Klinefelter syndrome: Expanding the phenotype and identifying new research directions

Analysis of the pseudoautosomal X-linked geneSYBL1in bipolar affective disorder: Description of a new candidate allele for psychiatric disorders

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