Epigenetics and genomics in Turner syndrome

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Mette ViuffClaus H Gravholt

Abstract

The pathogenesis of Turner syndrome (TS) and the genotype-phenotype relationship has been thoroughly investigated during the last decade. It has become evident that the phenotype seen in TS does not only depend on simple gene dosage as a result of X chromosome monosomy. The origin of TS specific comorbidities such as infertility, cardiac malformations, bone dysgenesis, and autoimmune diseases may depend on a complex relationship between genes as well as transcriptional and epigenetic factors affecting gene expression across the genome. Furthermore, two individuals with TS with the exact same karyotype may exhibit completely different traits, suggesting that no conventional genotype-phenotype relationship exists. Here, we review the different genetic mechanisms behind differential gene expression, and highlight potential key-genes essential to the comorbidities seen in TS and other X chromosome aneuploidy syndromes. KDM6A, important for germ cell development, has shown to be differentially expressed and methylated in Turner and Klinefelter syndrome across studies. Furthermore, TIMP1/TIMP3 genes seem to affect the prevalence of bicuspid aortic valve. KDM5C could play a role in the neurocognitive development of Turner and Klinefel...Continue Reading

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Citations

Feb 23, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Paul Kruszka, Michael Silberbach
Aug 20, 2020·Journal of Pediatric Endocrinology & Metabolism : JPEM·Rakhi MalhotraRajesh Khadgawat
May 2, 2020·Cellular and Molecular Life Sciences : CMLS·Armando Di PaloNicoletta Potenza
Oct 22, 2019·Frontiers in Cell and Developmental Biology·He FangJoel B Berletch
Jul 22, 2021·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Juan DuHongsong Yu
Aug 14, 2021·Human Molecular Genetics·He FangChristine M Disteche

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