G2Cdb::Human Disease report

Disease id
D00000169
Name
Schizoaffective disorder
Nervous system disease
yes

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001807 MBP
myelin basic protein
Y (8723042) Translocation (T) N

References

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

    Calzolari E, Aiello V, Palazzi P, Sensi A, Calzolari S, Orrico D, Calliari L, Holler H, Marzi C, Belli S, Bernardi F and Patracchini P

    Istituto di Genetica Medica, Universitá Ferrara, Universitá Ferrara, Italy.

    Two related patients with similar clinical features consisting of a few dysmorphic signs and psychiatric disturbance were reported to have a partial trisomy of chromosomes 15(pter-q13.3) and 18(q23-qter) deriving from a familial translocation t(15;18). One patient is affected by bipolar disorder and the other by schizoaffective disorder. Both cases have a predominantly affective course; nevertheless, a clear diagnosis is difficult in the first patient, who is 15 years of age, and only a longitudinal course will allow us to establish a definite diagnosis. The possibility that these two pathologies belong to a single category is discussed, and the presence of a susceptibility locus on chromosome 18 is hypothesized. Cytogenetic data, FISH, and DNA studies indicate that the myelin basic protein (MPB) gene is not involved in the translocation, and localize it centromeric to the breakpoint on chromosome 18(q22.3). Thus, it is unlikely to be involved in the disease.

    American journal of medical genetics 1996;67;2;154-61

Literature (1)

Pubmed - human_disease

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

    Calzolari E, Aiello V, Palazzi P, Sensi A, Calzolari S, Orrico D, Calliari L, Holler H, Marzi C, Belli S, Bernardi F and Patracchini P

    Istituto di Genetica Medica, Universitá Ferrara, Universitá Ferrara, Italy.

    Two related patients with similar clinical features consisting of a few dysmorphic signs and psychiatric disturbance were reported to have a partial trisomy of chromosomes 15(pter-q13.3) and 18(q23-qter) deriving from a familial translocation t(15;18). One patient is affected by bipolar disorder and the other by schizoaffective disorder. Both cases have a predominantly affective course; nevertheless, a clear diagnosis is difficult in the first patient, who is 15 years of age, and only a longitudinal course will allow us to establish a definite diagnosis. The possibility that these two pathologies belong to a single category is discussed, and the presence of a susceptibility locus on chromosome 18 is hypothesized. Cytogenetic data, FISH, and DNA studies indicate that the myelin basic protein (MPB) gene is not involved in the translocation, and localize it centromeric to the breakpoint on chromosome 18(q22.3). Thus, it is unlikely to be involved in the disease.

    American journal of medical genetics 1996;67;2;154-61

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

Cookies Policy | Terms and Conditions. This site is hosted by Edinburgh University and the Genes to Cognition Programme.