Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?

Figures & data

Table 1 Main characteristics of the patients (n = 80)

	N	%
Male/female	53/27	66/34
Mean age/range (years)	35.0/18–62
Mean age at onset of psychosis/range (years)	27.1/9–61
Mean number of episodes/range	2.8/1–15
Diagnoses (ICD-10)
Schizophrenia	50	62.5
Schizoaffective disorder	6	7.5
Acute and transient psychotic disorder	11	13.8
Bipolar disorder (psychotic)	6	7.5
Other psychotic disorders	7	8.8
PANSS scores (range) at inclusion
Total score	86.1 (46–138)
Positive subscale	23.1 (11–37)
Negative subscale	19.9 (7–40)
Global subscale	43.0 (22–67)
Mean CGI score (range)
Severity	4.5 (2–7)

Abbreviations: PANSS, Positive and Negative Syndrome Scale; CGI, Clinical Global Impression Scale; ICD-10, International Statistical Classification of Disease and Related Health Problems, 10th Revision.

Figure 1 In the upper panel (i) of each plot (A–C), the log2 test over reference ratio is plotted on the y-axis against the genomic Mb position from pter to qter on the respective chromosome represented by the idiogram on the x-axis in the lower part of each figure.

Notes: Each red dot represents the average value for a certain SNP probe. The normal ratio with value 0 is indicated by the solid, horizontal blue line. Values for normal ratios range between −0.38 and +0.3. Values outside this range are considered abnormal.³⁹ In panel (ii), the thick blue line represents the average of ten neighboring SNP probe values. In each figure, the aberrant chromosomal region is indicated by a rectangle that is enlarged in the lower left side of that figure. The gene content, 250 k SNP array probe coverage, structural variation and segmental duplications of the aberrant chromosomal region is shown in the lower right side of the figure (screen shot of the Human March 2006 (hg18) Assembly of the UCSC genome browser, http://genome.ucsc.edu/). In A, the interstitial 3.5 Mb loss in 1q21.1 of patient A is shown. In B, the interstitial gain in 1p13.3 (375 kb) detected in patient B is shown, and in C, the 1.1 Mb interstitial gain in 7q11.21q11.22 of patient C is shown.

Table 2 Phenotype of the three patients with a potentially pathogenic CNV

Patient	Psychiatric phenotype	Somatic phenotype	ICD-10 diagnosis	CNV
A (61-year-old female)	Pananxiety, religious delusions, delusions of influence, catastrophic thoughts, olfactory and auditory hallucinations	Dysplastic ear helices, length and head circumference <2.5 SD	Acute polymorphic psychotic disorder without symptoms of schizophrenia	3.5 Mb loss in 1q21.1
B (36-year-old male)	Pressure of speech, misrecognition of persons, thought incoherence, transient visual misinterpretations	No dysmorphisms	Schizoaffective disorder, manic type	375 kb gain in 1p13.3
C (22-year-old male)	Delusions of persecution and grandiose identity, nonaffective verbal hallucinations about himself	No dysmorphisms	Acute schizophrenia-like psychotic disorder	1.1 Mb gain in 7q11.21q11.22

Abbreviations: CNV, copy number variant; ICD-10, International Statistical Classification of Disease and Related Health Problems, 10th Revision; SD, standard deviation.

Hehir-KwaJEgmont-PetersenMJanssenIGenome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysisDNA Res20071411117363414

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