Ehlers–Danlos syndrome-related genes and serum strontium, zinc, and lithium levels in generalized joint hypermobility: a case-control study

Tuna, Filiz; Doğanlar, Zeynep Banu; Özdemir, Hande; Kabayel, Derya Demirbağ; Doğanlar, Oğuzhan

doi:10.1080/03008207.2019.1675648

Cited by 7 publications

(6 citation statements)

References 40 publications

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“…Splice variants frequently give rise to alternative splicing and affect protein coding. Consistent with the results, the mutations identified in Ehlers-Danlos-syndrome-related gene COL5A1 (Tuna et al, 2019;Angwin et al, 2020) and Kaufman-Oculocerebrofacial-syndrome-related gene UBE3B (Cheon et al, 2019;Ambrozkiewicz et al, 2020) also had a higher risk of disease. However, no results of the PAX3 mutation were available through the prediction tools.…”

Section: Case Presentationsupporting

confidence: 81%

Case Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1

Shen

et al. 2021

Front. Genet.

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Background: Waardenburg Syndrome Type 1 (WS1) is a rare hereditary disease, which is usually caused by the mutations of PAX3 (paired box 3). Here, we reported a pedigree with WS1, which was caused by a novel mutation in PAX3.Case Report: In this present report, a 10-year-old boy and his twin sister from a Han Chinese family presented with iris pigmentary abnormality, synophrys, and broad and high nasal root. Their father presented premature whitening of the hair, but no iris pigmentary abnormality. Their aunts presented the same clinical characteristics with the twins and premature graying of hair. However, none of the patients reported hearing loss. The clinical diagnosis of the four patients from this pedigree was WS1. The whole exome sequencing (WES) revealed a novel mutation (c.959-5T>G) in the PAX3 gene, which could be responsible for the observed pathogenic of WS1 in this pedigree. The genetic test confirmed the diagnosis of WS1 in the four patients from the studied pedigree.Conclusion: This present study demonstrated that genetic test based on WES, an effective alternative to regular clinical examinations, helps diagnose WS1. The newly identified PAX3 gene mutation can expand the understanding of WS1.

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Section: Case Presentationsupporting

confidence: 81%

Case Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1

Shen

et al. 2021

Front. Genet.

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“…Spondylodysplastic EDS is also associated with mutations in SLC39A13. 65 Further research on gene expression and serum levels may help to identify biomarkers for hEDS.…”

Section: Gene Expression Analysismentioning

confidence: 99%

“…SLC39A13 which encodes a Zn exporter ZIP13, which plays a role in connective tissue development, was increased in GJH patients. Spondylodysplastic EDS is also associated with mutations in SLC39A13 65 . Further research on gene expression and serum levels may help to identify biomarkers for hEDS.…”

Section: Molecular Biologymentioning

confidence: 99%

Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

Gensemer

Burks

Kautz

et al. 2020

Developmental Dynamics

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The Ehlers-Danlos syndromes (EDS) are a group of heritable, connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. There is phenotypic and genetic variation among the 13 subtypes. The initial genetic findings on EDS were related to alterations in fibrillar collagen, but the elucidation of the molecular basis of many of the subtypes revealed several genes not involved in collagen biosynthesis or structure. However, the genetic basis of the hypermobile type of EDS (hEDS) is still unknown. hEDS is the most common type of EDS and involves generalized joint hypermobility, musculoskeletal manifestations, and mild skin involvement along with the presence of several comorbid conditions. Variability in the spectrum and severity of symptoms and progression of patient phenotype likely depend on age, gender, lifestyle, and expression domains of the EDS genes during development and postnatal life. In this review, we summarize the current molecular, genetic, epidemiologic, and pathogenetic findings related to EDS with a focus on the hypermobile type.

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“…Tuna and colleagues studied which gene expressions and serum levels are altered in GJH, with the aim of highlighting the positive correlation with the Beighton score, trying to identify altered gene and molecular expressions that could easily be found even in patients with EDS. The results are reported in the table below ( Table 3 ) [ 72 ], with the highlighted parameters showing a significant positive correlation with the Beighton Score, at the Pearson correlation analysis.…”

Section: Diagnosis Of Hypermobile Edsmentioning

confidence: 99%

Biomarkers for Ehlers-Danlos Syndromes: There Is a Role?

Caliogna

Guerrieri

Annunziata

et al. 2021

IJMS

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Ehlers-Danlos syndromes (EDS) are an inherited heterogeneous group of connective tissue disorders characterized by an abnormal collagen synthesis affecting skin, ligaments, joints, blood vessels, and other organs. It is one of the oldest known causes of bruising and bleeding, and it was described first by Hippocrates in 400 BC. In the last years, multiple gene variants involved in the pathogenesis of specific EDS subtypes have been identified; moreover, new clinical diagnostic criteria have been established. New classification models have also been studied in order to differentiate overlapping conditions. Moreover, EDS shares many characteristics with other similar disorders. Although distinguishing between these seemingly identical conditions is difficult, it is essential in ensuring proper patient care. Currently, there are many genetic and molecular studies underway to clarify the etiology of some variants of EDS. However, the genetic basis of the hypermobile type of EDS (hEDS) is still unknown. In this review, we focused on the study of two of the most common forms of EDS—classic and hypermobile—by trying to identify possible biomarkers that could be of great help to confirm patients’ diagnosis and their follow up.

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Ehlers–Danlos syndrome-related genes and serum strontium, zinc, and lithium levels in generalized joint hypermobility: a case-control study

Cited by 7 publications

References 40 publications

Case Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1

Case Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1

Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

Biomarkers for Ehlers-Danlos Syndromes: There Is a Role?

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