Back to Search
Start Over
Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression.
- Source :
-
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2019 Oct; Vol. 180 (7), pp. 471-482. Date of Electronic Publication: 2019 Jun 03. - Publication Year :
- 2019
-
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.<br /> (© 2019 Wiley Periodicals, Inc.)
- Subjects :
- Adolescent
Autism Spectrum Disorder genetics
Autism Spectrum Disorder physiopathology
Autistic Disorder genetics
Autistic Disorder physiopathology
Cell Adhesion Molecules, Neuronal metabolism
Child
Chromosome Aberrations
DNA Copy Number Variations genetics
Gene Dosage genetics
Genes, Y-Linked genetics
Humans
Karyotyping
Male
Neuropsychological Tests
Phenotype
XYY Karyotype genetics
Cell Adhesion Molecules, Neuronal genetics
Chromosomes, Human, Y genetics
XYY Karyotype physiopathology
Subjects
Details
- Language :
- English
- ISSN :
- 1552-485X
- Volume :
- 180
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 31161682
- Full Text :
- https://doi.org/10.1002/ajmg.b.32745