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Chunk #25 — Discussion

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Expanding the range of ZNF804A variants conferring risk of psychosis.
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The CNV portion of this study involved a large data set, but additional information about CNVs is also publicly available. In approximately 12 000 controls from studies included in the Database of Genomic Variants24 and three other reports,25–27 two CNVs involving ZNF804A exons, both from the same study,28 are found. One event is a deletion of the entire gene in an African-American parent–offspring pair, and the second is a deletion affecting the 3′ exons of the gene in a European-American child. Although these CNV carriers are classified as healthy controls, the children, aged 0–18 years, may subsequently develop psychiatric disorders, and the parent, though free of major medical problems, does not seem to have been extensively interviewed for psychiatric disorders. In about 3800 schizophrenia cases not overlapping with those in this report25,27,29,30 and about 1000 bipolar cases,26 no additional ZNF804A events are found (note that the ZNF804A deletion observed in the ISC data set1 is from an individual also included in this study), but in approximately 1700 autism families and 400 unrelated autism cases,31–36 there is a duplication of the