2021
DOI: 10.1186/s13148-021-01123-4
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DNA methylation and behavioral dysfunction in males with 47,XXY and 49,XXXXY: a pilot study

Abstract: Background Equal dosage of X-linked genes between males and females is maintained by the X-inactivation of the second X chromosome in females through epigenetic mechanisms. Boys with aneuploidy of the X chromosome exhibit a host of symptoms such as low fertility, musculoskeletal anomalies, and cognitive and behavioral deficits that are presumed to be caused by the abnormal dosage of these genes. The objective of this pilot study is to assess the relationship between CpG methylation, an epigenet… Show more

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Cited by 3 publications
(7 citation statements)
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“…[ 18 ]. Some authors hypothesised that the overall features of affected patients were due to the abnormal dosage of genes beyond what is normally guaranteed between males and females by X-inactivation of the second X chromosome in females [ 21 ]. It is known that clinical, neurocognitive, and developmental characteristics worsen with extra X chromosomes [ 37 ].…”
Section: Discussionmentioning
confidence: 99%
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“…[ 18 ]. Some authors hypothesised that the overall features of affected patients were due to the abnormal dosage of genes beyond what is normally guaranteed between males and females by X-inactivation of the second X chromosome in females [ 21 ]. It is known that clinical, neurocognitive, and developmental characteristics worsen with extra X chromosomes [ 37 ].…”
Section: Discussionmentioning
confidence: 99%
“…It is known that clinical, neurocognitive, and developmental characteristics worsen with extra X chromosomes [ 37 ]. Gropman and colleagues [ 10 ] studied clinical variability and neurodevelopmental findings in 20 patients affected by 49, XXXXY and attributed the variability of their profile to skewed inactivation of additional chromosomes or mosaicism and methylation abnormalities [ 21 ]. According to Lee et al [ 21 ], methylation levels of multiple CpGs in androgen receptor (AR) monoamine oxidase A (MAO-A) genes are associated with differences in both internalizing and externalizing behaviour in boys with 49, XXXXY as compared with neurotypical boys.…”
Section: Discussionmentioning
confidence: 99%
See 3 more Smart Citations