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Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression. | LitMetric

AI Article Synopsis

  • A unique male with a dicentric Y chromosome was studied to compare his physical and cognitive characteristics to those of males with the 47,XYY chromosome arrangement, known to be linked to certain behavioral and autism risk factors.
  • This male showed tall stature and typical cognitive function with no signs of autism, despite having increased expression of some Y chromosome genes and not expressing the gene NLGN4Y which is thought to affect autism risk.
  • The findings suggest that the lack of NLGN4Y expression could be important in preventing autism symptoms, indicating a need for more research on NLGN4Y's role in autism risk in males with XYY abnormalities.

Article Abstract

We describe a unique male with a dicentric Y chromosome whose phenotype was compared to that of males with 47,XYY (XYY). The male Y-chromosome aneuploidy XYY is associated with physical, behavioral/cognitive phenotypes, and autism spectrum disorders. We hypothesize that increased risk for these phenotypes is caused by increased copy number/overexpression of Y-encoded genes. Specifically, an extra copy of the neuroligin gene NLGN4Y might elevate the risk of autism in boys with XYY. We present a unique male with the karyotype 46,X,idic(Y)(q11.22), which includes duplication of the Y short arm and proximal long arm and deletion of the distal long arm, evaluated his physical, behavioral/cognitive, and neuroimaging/magnetoencephalography (MEG) phenotypes, and measured blood RNA expression of Y genes. The proband had tall stature and cognitive function within the typical range, without autism features. His blood RNA showed twofold increase in expression of Yp genes versus XY controls, and absent expression of deleted Yq genes, including NLGN4Y. The M100 latencies were similar to findings in typically developing males. In summary, the proband had overexpression of a subset of Yp genes, absent NLGN4Y expression, without ASD findings or XYY-MEG latency findings. These results are consistent with a role for NLGN4Y overexpression in the etiology of behavioral phenotypes associated with XYY. Further investigation of NLGN4Y as an ASD risk gene in XYY is warranted. The genotype and phenotype(s) of this subject may also provide insight into how Y chromosome genes contribute to normal male development and the male predominance in ASD.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6730649PMC
http://dx.doi.org/10.1002/ajmg.b.32745DOI Listing

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