Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern

Simonetti, Luciane; Ferreira, Lucas Gonçalves; Vidi, Angela Cristina; Souza, Janaína Sena de; Kunii, Ilda S.; Melaragno, Maria Isabel; Mello, Cláudia Berlim de; Carvalheira, Gianna; Silva, Magnus R. Dias da

doi:10.3389/fgene.2021.724625

Cited by 4 publications

(4 citation statements)

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“…Additionally, intellectual disability was assessed in 57.1% of the patients. Similarly, Simonetti et al, [23] recorded intellectual disability present in KF relies on an imbalance in X-chromosome gene expression. On the other hand, it was reported that the majority of subjects with 47, XXY karyotype have a normal intellectual level [24].…”

Section: Discussionmentioning

confidence: 81%

Impact of Heat Shock Protein and Tumor Necrosis Factor on Klinefelter Syndrome

Zaki

Youness

Elmalt

et al. 2023

Preprint

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Background: Klinefelter Syndrome (KS) is the most common sex chromosome aneuploidy (47, XXY), with the existence of an extra chromosome that produces increased levels of gene products and changes in gene expression and contributing to proinflammatory status. Aim: identifying the impact of heat shock proteins and tumor Necrosis Factor on KF pathogenesis. Methods: This study included 35 Klinefelter patients, their age ranged from 8-16 years (14.14±1.95). Patients were clinically diagnosed, then karyotype was performed to all patients. Biochemical analyses including Heat shock proteins (HSPs) and the proinflammatory marker TNF-α were performed. Results: Developmental delay occurred in 48.6% and facial dysmorphism including epicanthal folds, hypertelorism, depressed nasal bridge in 28.6%, gynecomastia in 28.6%, undescended Testis in 60%, increased height in 69.6%, congenital heart disease in 54.3%, intellectual disability in 57.1% and the karyotype was 47, XXY in all patients. The level of Heat Shock Protein –70 and TNF α in Klinefelter syndrome patients was higher compared to the normal controls. Moreover, the level of heat Shock Protein –70 and TNF α in the patients with Klinefelter syndrome and intellectual disability was higher than those without intellectual disability. On the other hand, testosterone level was decreased in KF patients compared to controls. Moreover, a significant negative correlation was observed between testosterone and both Heat Shock Protein –70 and TNF- α. Conclusion: The particular impacts of Heat Shock Protein –70 and TNF- α remain to be elucidated in future studies to enlighten their importance and possible association with the severity of Klinefelter syndrome.

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Section: Discussionmentioning

confidence: 81%

Impact of Heat Shock Protein and Tumor Necrosis Factor on Klinefelter Syndrome

Zaki

Youness

Elmalt

et al. 2023

Preprint

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“…Класична форма синдрому Клайнфельтера, яка наявна у 80-90 % випадків, визначається каріотипом 47,XXY унаслідок анеуплоїдії статевих хромосом, тоді як анеуплоїдії вищого ступеня (наприклад, 48,XXXY або 48,XXYY), структурно аномальна Х-хромосома (наприклад, 47,iXq,Y) або мозаїцизм (наприклад, 47,XXY/46,XY) становлять решту 10-20 % випадків [2][3][4][5].…”

Section: вступunclassified

Klinefelter syndrome in combination with familial male-limited precocious puberty (clinical case)

Sorokman

Koliesnik

Cherney

2023

Mìžnarodnij endokrinologìčnij žurnal

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The article presents the results of a literature review on Klinefelter syndrome combined with familial male-limited precocious puberty and describes a clinical case. Klinefelter syndrome is a form of male hypogonadism, characterized by the presence of an extra X chromosome, small testes, seminiferous tubule dysgenesis, high levels of gonadotropin, low serum testosterone level, underdeveloped secondary sex characteristics and male infertility. Klinefelter syndrome is characterized by extreme heterogeneity of clinical and genetic manifestations. The prevalence of Klinefelter syndrome is 0.1 to 0.2 % in male newborns and increases to 3 to 4 % among infertile men and 10 to 12 % in patients with azoospermia. Currently, it is not known how to treat patients with mild Klinefelter syndrome that remains undiagnosed or is combined with other genetic pathology, including gonadotropin-independent precocious puberty. This disease is caused by an autosomal dominant inherited activating pathogenic variant of the gene encoding the luteinizing hormone/chorionic gonadotropin receptor, which belongs to the family of G protein-coupled receptors. In men, activation of pathogenic variants of this gene causes excessive secretion of testosterone, which triggers early peripheral (precocious) puberty. Treatment recommendations have been developed in part mainly because of the limited number of reported cases, small sample sizes, and short-term outcomes. The presented clinical case is important in view of the possible risk of developing malignant testicular neoplasms in patients with precocious puberty. Therefore, long-term follow-up during and after puberty is recommended. It is of great importance to take into account the aforementioned clinical manifestations in order to made early diagnosis of this syndrome, offer timely genetic counseling to parents, and rehabilitate these patients physically, psychically and socially.

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“…GTPBP6 was found to be among differentially expressed X-linked genes in an association study of verbal cognition defects in a group of Klinefelter's Syndrome (KS) individuals [203]. Both GTPBP6 and SYBL1 (encoding VAMP7) are involved in cognitive development, and GTPBP6 expression has been found negatively associated with full-scale intelligent quotient (IQ) under the regulation of the type of X-chromosome inactivation (XCI) pattern [204].…”

Section: Other Trafficking Factorsmentioning

confidence: 99%

Nuclear and Cytoplasmatic Players in Mitochondria-Related CNS Disorders: Chromatin Modifications and Subcellular Trafficking

et al. 2022

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Aberrant mitochondrial phenotypes are common to many central nervous system (CNS) disorders, including neurodegenerative and neurodevelopmental diseases. Mitochondrial function and homeostasis depend on proper control of several biological processes such as chromatin remodeling and transcriptional control, post-transcriptional events, vesicle and organelle subcellular trafficking, fusion, and morphogenesis. Mutation or impaired regulation of major players that orchestrate such processes can disrupt cellular and mitochondrial dynamics, contributing to neurological disorders. The first part of this review provides an overview of a functional relationship between chromatin players and mitochondria. Specifically, we relied on specific monogenic CNS disorders which share features with mitochondrial diseases. On the other hand, subcellular trafficking is coordinated directly or indirectly through evolutionarily conserved domains and proteins that regulate the dynamics of membrane compartments and organelles, including mitochondria. Among these “building blocks”, longin domains and small GTPases are involved in autophagy and mitophagy, cell reshaping, and organelle fusion. Impairments in those processes significantly impact CNS as well and are discussed in the second part of the review. Hopefully, in filling the functional gap between the nucleus and cytoplasmic organelles new routes for therapy could be disclosed.

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Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern

Cited by 4 publications

References 63 publications

Impact of Heat Shock Protein and Tumor Necrosis Factor on Klinefelter Syndrome

Impact of Heat Shock Protein and Tumor Necrosis Factor on Klinefelter Syndrome

Klinefelter syndrome in combination with familial male-limited precocious puberty (clinical case)

Nuclear and Cytoplasmatic Players in Mitochondria-Related CNS Disorders: Chromatin Modifications and Subcellular Trafficking

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