Detection of Turner Syndrome by Quantitative PCR of <i>SHOX</i> and <i>VAMP7</i> Genes

Ibarra‐Ramírez, Marisol; Zamudio-Osuna, Michelle Jesús; Campos-Acevedo, Luis Daniel; Gallardo‐Blanco, Hugo L.; Cerda‐Flores, Ricardo M.; Rodríguez‐Sánchez, Iram P.; Martínez-de-Villarreal, Laura Elia

doi:10.1089/gtmb.2014.0236

Cited by 6 publications

(2 citation statements)

References 21 publications

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“…A second subgroup of FGR fetuses with extremely short long bones is related to a dysfunction in the Growth Hormone/Insulin Growing Factor‐1 (GH/IGF‐1) axis. It is well established that GH plays a critical role in human growth, primarily through its regulation of IGF‐1 production.…”

Section: Monogenic Disordersmentioning

confidence: 99%

Genetic syndromes associated with isolated fetal growth restriction

2020

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Early onset fetal growth restriction (FGR) may be due to impaired placentation, environmental or toxic exposure, congenital infections or genetic abnormalities. Remarkable research, mainly based on retrospective series, has been published on the diverse genetic causes. Those have become more and more relevant with the improvement in the accuracy of the analysis techniques and the rising of breakthrough genomewide methods such as the whole genome sequencing. However, no publication has presented an integrated view of management of those fetuses with an early and severe affection. In this review, we explored to which extent genetic syndromes can cause FGR fetuses without structural defects. The most common chromosomal abnormalities (Triploidies and Trisomy 18), submicroscopic chromosomal anomalies (22q11.2 microduplication syndrome) and single gene disorders (often associated with mild ultrasound findings) related to early and severe FGR had been analysed. Finally, we addressed the impact of epigenetic marks on fetal growth, a matter of growing importance. At the end of this review, we should be able to provide an adequate counseling to parents in terms of diagnosis, prognosis and management of those pregnancies.

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Section: Monogenic Disordersmentioning

confidence: 99%

Genetic syndromes associated with isolated fetal growth restriction

2020

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“…It has been proposed that loss of function of some genes, in particular SHOX, may contribute to the pathology of TS. Ibarra-Ramírez et al confirmed that SHOX and VAMP7 showed the most obvious gene dose changes in the pseudo-autosomal region of TS (6). Regarding the short stature, it has been suggested that the homeobox gene SHOX in the pseudoautosomal region is a major player, and the haplotype deficiency of this gene leads to growth disorders in TS (7,8).…”

Section: Discussionmentioning

confidence: 98%

A preliminary study on the mechanism of skeletal abnormalities in Turner syndrome using inducing pluripotent stem cells (iPS)-based disease models

Cui

Shi

et al. 2019

IRDR

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Osteoporosis represent one of main characteristics of Turner syndrome (TS), a rare diseases caused by aberrant deletion of X chromosomes, however, the underlying pathological mechanism remains unknown yet. In this study, we used pluripotent stem cells (iPSCs) derived from a Turner syndrome patient and a health control to induce functional osteoblasts and osteoclasts, in order to compare their difference in these two differentiation. We successfully produced functional osteoblasts and osteoclasts from iPSCs through embryoid bodies (EBs) and mesoderm stages, as demonstrated obvious mineralized nodules and multi-nuclear giant cells with positive tartrate-resistant acid phosphatase (TRAP) staining, and significant up-regulated differentiation marker genes. Interestingly, we found that there was no significant difference in phenotype and marker genes expression between osteoblasts from Turner syndrome and healthy control iPSCs. In contrast, Turner syndrome showed increased osteoclastogenesis compared to the healthy control indicating higher frequency of multi-nuclear TRAP staining cells and elevated osteoclast marker genes TRAP, MMP9, CA2, OSCAR. Therefore, our results suggest that the low bone density of Turner syndrome patients may be caused by aberrant osteoclast differentiation, and further investigation towards osteoclast function under Turner syndrome is deserved.

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