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New insights into the pathogenic mechanisms associated with CNVs: duplication of 17p13.3, mirror effect in 16p11.2 and recessive phenotype in 22q11.22

von Dott. Mafalda Mucciolo

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[1.] Mmu/Fragment 018 01 - Diskussion
Zuletzt bearbeitet: 2016-02-07 14:49:47 Hindemith
Fragment, Gesichtet, KomplettPlagiat, Mmu, Philip Bassett 2011, SMWFragment, Schutzlevel sysop

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Developmental delays and learning difficulties are very commonly associated, although severe intellectual disability is rare. Recurrent seizures are common and epilepsy may be present in about 5% of patients. Psychiatric conditions may be present in children and over 60% of patients develop treatable psychiatric disorders by adulthood (Bassett et al. 2005). In particular, due to the high frequency of schizophrenia in 22q11.2DS patients, the 22q11.2 region is considered to be one of the main schizophrenia susceptibility loci in humans (Bassett and Chow 2008; Insel 2010). Evidence from multiple studies indicates that about 1% of individuals with schizophrenia in the general population have 22q11.2 deletions (Bassett et al. 2010).

1. Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet Part A. 2005; 138:307–313.

2. Bassett AS, Chow EW. Schizophrenia and 22q11.2 deletion syndrome. Curr Psychiatry Rep. 2008; 10:148–157.

3. Bassett AS, Costain G, Fung WLA, Russell KJ, Pierce L, Kapadia R, Carter RF, Chow EW, Forsythe PJ. Clinically detectable copy number variations in a Canadian catchment population of schizophrenia. J Psychiatr Res. 2010; 44:1005–1009.

13. Insel TR. Rethinking schizophrenia. Nature. 2010; 468:187–193.

Developmental delays and learning difficulties are very commonly associated, although severe intellectual disability (termed mental retardation in the DSM diagnostic system) is rare. Recurrent seizures are common, especially those related to hypocalcemia, and epilepsy may be present in about 5% of patients. Psychiatric conditions may be present in children and over 60% of patients develop treatable psychiatric disorders by adulthood (Bassett et al. 2005). This risk is a major concern for families. In particular, due to the high frequency of schizophrenia in 22q11.2DS patients, the 22q11.2 region is considered to be one of the main schizophrenia susceptibility loci in humans (Bassett and Chow 2008; Insel 2010).

[page 5]

Evidence from multiple studies indicates that about 1% of individuals with schizophrenia in the general population have 22q11.2 deletions (Bassett et al. 2010).


Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet Part A. 2005; 138:307–313. [PubMed: 16208694]

Bassett AS, Chow EW. Schizophrenia and 22q11.2 deletion syndrome. Curr Psychiatry Rep. 2008; 10:148–157. [PubMed: 18474208]

Bassett AS, Costain G, Fung WLA, Russell KJ, Pierce L, Kapadia R, Carter RF, Chow EW, Forsythe PJ. Clinically detectable copy number variations in a Canadian catchment population of schizophrenia. J Psychiatr Res. 2010; 44:1005–1009. [PubMed: 20643418]

Insel TR. Rethinking schizophrenia. Nature. 2010; 468:187–193. [PubMed: 21068826]

Anmerkungen

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(SleepyHollow02), Hindemith

[2.] Mmu/Fragment 018 20 - Diskussion
Zuletzt bearbeitet: 2016-02-07 14:51:28 Hindemith
Fragment, Gesichtet, KomplettPlagiat, Mmu, Philip Bassett 2011, SMWFragment, Schutzlevel sysop

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As clinical variability is not explained by differences in gene content within the deletion, allelic variation(s) in the non-deleted homologous region is considered a possible contributor to phenotypic variability. Most of the genes from the 22q11.2 deletion region are expressed in fetal and adult brain, thus are candidates for both the psychiatric phenotype of patients with 22q11.2 deletions and susceptibility to psychiatric disorders in the general population (Meechan et al. 2010).

19. Meechan DW, Maynard TM, Tucker ES, Lamantia AS. Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: patterning, proliferation, and mitochondrial functions of 22q11 genes. Int J Dev Neurosci. 2011 May;29(3):283-94.

As clinical variability is not explained by differences in gene content within the deletion, allelic variation(s) in the non-deleted homologous region is considered a possible contributor to phenotypic variability. [...]

[...]

Most of the genes from the 22q11.2 deletion region are expressed in fetal and adult brain, thus are candidates for both the psychiatric phenotype of patients with 22q11.2 deletions and susceptibility to psychiatric disorders in the general population (Meechan et al. 2010).


Meechan DW, Maynard TM, Tucker ES, Lamantia AS. Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: patterning, proliferation, and mitochondrial functions of 22q11 genes. Int J Dev Neurosci. 2010 in press.

Anmerkungen

The source is not given.

Meechan et al. (2011) does not contain the text.

Sichter
(SleepyHollow02), Hindemith


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