Epigenetics and genomics in Klinefelter syndrome.
Klinefelter syndrome
epigenetics
genomics
genotype
phenotype
sex chromosomes
Journal
American journal of medical genetics. Part C, Seminars in medical genetics
ISSN: 1552-4876
Titre abrégé: Am J Med Genet C Semin Med Genet
Pays: United States
ID NLM: 101235745
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
07
02
2020
revised:
06
05
2020
accepted:
09
05
2020
pubmed:
3
6
2020
medline:
6
5
2021
entrez:
3
6
2020
Statut:
ppublish
Résumé
Since the first description of Klinefelter syndrome (KS) was published in 1942 in The Journal of Clinical Endocrinology, large inter-individual variability in the phenotypic presentation has been demonstrated. However, our understanding of the global impact of the additional X chromosome on the genome remains an enigma. Evidence from the existing literature of KS indicates that not just one single genetic mechanism can explain the phenotype and the variable expressivity, but several mechanisms may be at play concurrently. In this review, we describe different genetic mechanisms and recent advances in the understanding of the genome, epigenome, and transcriptome of KS and the link to the phenotype and clinical heterogeneity. Future studies are needed to unite clinical data, genomic data, and basic research attempting to understand the genetics behind KS. Unraveling the genetics of KS will be of clinical relevance as it may enable the use of polygenic risk scores to predict future disease susceptibility and enable clinical risk stratification of KS patients in the future.
Identifiants
pubmed: 32484281
doi: 10.1002/ajmg.c.31802
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
216-225Informations de copyright
© 2020 Wiley Periodicals, Inc.
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