Psychiatric disorder in a familial 15;18 translocation and sublocalization of myelin basic protein to 18q22.3

Calzolari, Elisa; Aiello, Vincenzo; Palazzi, P.; Calzolari, Stefano; Orrico, Daniele; Calliari, L.; Holler, H.; Marzi, Carlo Alberto; Belli, Serena; Bernardi, Francesco; Patracchini, P.

doi:10.1002/(sici)1096-8628(19960409)67:2<154::aid-ajmg5>3.0.co;2-s

Cited by 20 publications

(8 citation statements)

References 44 publications

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“…There are other genetic observations that support the possibility of a schizophrenia susceptibility locus in this region of chromosome 15. A recent cytogenetic investigation implicates the chromosome 15q14 region in two cases of schizophrenia in an extended pedigree [Calzolari et al, 1996]. In this family, meioses involving a balanced translocation with a breakpoint at 15q13-14 produced a satellite chromosome in two cousins whose mothers both carried the translocation.…”

Section: Discussionmentioning

confidence: 94%

Further investigation of a chromosome 15 locus in schizophrenia: Analysis of affected sibpairs from the NIMH genetics initiative

et al. 1998

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Linkage of a neurophysiological deficit associated with schizophrenia, i.e., the failure to inhibit the auditory P50 response, was previously reported at chromosome 15q14. The marker with the highest pairwise lod score, D15S1360, was isolated from a yeast artificial chromosome containing a candidate gene, the ␣7-nicotinic acetylcholine receptor gene. In the present study, this linkage was further investigated in a subset of the NIMH Genetics Initiative schizophrenia families. These families have not been studied neurophysiologically, as were the families in the original report. Therefore, the DSMIII-R diagnosis of schizophrenia was used as the affected phenotype. Twenty families fulfilled the criteria of at least one sibpair concordant for schizophrenia, along with their two parents or another affected relative outside the nuclear family, available for genotyping. Sibpair analysis s h o w e d a s i g n i f i c a n t p r o p o r t i o n o f D15S1360 alleles shared identical-bydescent (0.58; P < 0.0024). The results further support the involvement of this chromosomal locus in the genetic transmission of schizophrenia. Am.

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Section: Discussionmentioning

confidence: 94%

Further investigation of a chromosome 15 locus in schizophrenia: Analysis of affected sibpairs from the NIMH genetics initiative

et al. 1998

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“…An Italian kindred contains two cousins with psychotic illness and a partial trisomy of chromosome 15, derived independently from abnormal meioses involving a balanced familial translocation with a 15q13 breakpoint, that was present in each of their mothers. It was suggested that the new trisomies may have caused the de novo appearance of illness (63). Further studies will be needed to determine to what extent the appearance of psychoses in these families with other genetic abnormalities at 15q13-14 involves the ␣7-gene.…”

Section: Discussionmentioning

confidence: 99%

Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus

Freedman

Coon

Myles-Worsley

et al. 1997

Proc. Natl. Acad. Sci. U.S.A.

1,072

678

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Inheritance of a defect in a neuronal mechanism that regulates response to auditory stimuli was studied in nine families with multiple cases of schizophrenia. The defect, a decrease in the normal inhibition of the P50 auditoryevoked response to the second of paired stimuli, is associated with attentional disturbances in schizophrenia. Decreased P50 inhibition occurs not only in most schizophrenics, but also in many of their nonschizophrenic relatives, in a distribution consistent with inherited vulnerability for the illness. Neurobiological investigations in both humans and animal models indicated that decreased function of the ␣7-nicotinic cholinergic receptor could underlie the physiological defect. In the present study, a genome-wide linkage analysis, assuming autosomal dominant transmission, showed that the defect is linked [maximum logarithm of the odds (lod) score ‫؍‬ 5.3 with zero recombination] to a dinucleotide polymorphism at chromosome 15q13-14, the site of the ␣7-nicotinic receptor. Despite many schizophrenics' extremely heavy nicotine use, nicotinic receptors were not previously thought to be involved in schizophrenia. The linkage data thus provide unique new evidence that the ␣7-nicotinic receptor gene may be responsible for the inheritance of a pathophysiological aspect of the illness.

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“…[33][34][35][36][37][38][39] Most of these studies are reports of chromosomal aberrations in patients with bipolar disorder 34,36,[38][39][40] and one genome-wide study in a large Amish family that provided suggestive evidence with a marker on ch15. 35 Finally, positive linkage results were found between a gene that codes for ␣7-nicotinic receptor and sensory gating deficits in schizophrenic patients.…”

Section: Discussionmentioning

confidence: 99%

Mapping susceptibility genes for bipolar disorder: a pharmacogenetic approach based on excellent response to lithium

et al. 2001

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Genetic mapping studies in bipolar disorder (BD) have been hampered by the unclear boundaries of the phenotypic spectrum, and possibly, by the complexity of the underlying genetic mechanisms, and heterogeneity. Among the suggested approaches to circumvent these problems, a pharmacogenetic strategy has been increasingly proposed. Several studies have indicated that patients with BD who respond well to lithium prophylaxis constitute a biologically distinct subgroup. In this study we have conducted a complete genome scan using 378 markers spaced at an average distance of 10 cM in 31 families ascertained through excellent lithium responders. Response to lithium was evaluated prospectively with an average follow-up of 12 years. Evidence for linkage was found with a locus on chromosome 15q14 (ACTC, lod score = 3.46, locus-specific P-value = 0.000014) and suggestive results were observed for another marker on chromosome 7q11.2 (D7S1816, lod score = 2.68, locus-specific P-value = 0.00011). Other interesting findings were obtained with markers on chromosomes 6 and 22, namely D6S1050 (lod score = 2.0, locus-specific P-value = 0.00004) and D22S420 (lod score = 1.91). Nonparametric linkage analysis provided additional support for the role of these loci. Further analyses of these results suggested that the locus on chromosome 15q14 may be implicated in the etiology of BD, whereas the 7q11.2 locus may be relevant for lithium response. In conclusion, our results provide original evidence suggesting that loci on 15q14 and 7q11.2 may be implicated in the pathogenesis of BD responsive to lithium. Molecular Psychiatry (2001) 6, 570-578.

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Psychiatric disorder in a familial 15;18 translocation and sublocalization of myelin basic protein to 18q22.3

Cited by 20 publications

References 44 publications

Further investigation of a chromosome 15 locus in schizophrenia: Analysis of affected sibpairs from the NIMH genetics initiative

Further investigation of a chromosome 15 locus in schizophrenia: Analysis of affected sibpairs from the NIMH genetics initiative

Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus

Mapping susceptibility genes for bipolar disorder: a pharmacogenetic approach based on excellent response to lithium

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