Phenotype of ST3GAL3 deficient patients: A case and review of the literature

Khamirani, Hossein Jafari; Zoghi, Sina; Faghihi, Fatemeh; Dastgheib, Seyed Alireza; Hassanipour, Hamidreza; Tabei, Seyed Mohammad Bagher; Mohammadi, Sanaz; Masoudi, Marjan; Poorang, Shiva; Ehsani, Elham; Dianatpour, Mehdi

doi:10.1016/j.ejmg.2021.104250

Cited by 13 publications

(47 citation statements)

References 21 publications

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“…There are similarities between Okur-Chung syndrome and Kleefstra syndrome, Coffin-Siris syndrome, Rubinstein-Taybi syndrome, Gabriele-de Vries syndrome, epileptic encephalopathy 15, and a lot of other disorders [Akahira-Azuma et al, 2018;Khamirani et al, 2021Khamirani et al, , 2022. All of the mentioned disorders present with a wide spectrum of symptoms including developmental delay, intellectual disability, and distinctive facial appearance.…”

Section: Discussionmentioning

confidence: 99%

Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review

et al. 2022

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Introduction: Autosomal dominant pathogenic variations in the CSNK2A1 gene cause Okur-Chung neurodevelopmental syndrome (OCNDS). Methods: The proband and her parents were examined thoroughly and observed for any issues related to OCNDS. Furthermore, peripheral blood samples were collected from each subject for further investigations. Whole-exome sequencing identified a pathogenic variant in CSNK2A1 (NM_001895: c.62G>A, p.R21Q; rs1402734448). Results: The proband has global developmental delay, speech disorders, epilepsy, and behavioral issues. Despite the previously reported cases, she manifested both atonic and myoclonic seizures simultaneously. Lastly, we provide a review of the reported cases with OCNDS. Discussion: p.R21Q causes OCNDS. Further studies are highly recommended concerning this mutation to validate the results of this study and expand the knowledge regarding CSNK2A1 and the phenotypic spectrum of OCNDS.

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Section: Discussionmentioning

confidence: 99%

Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review

et al. 2022

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“…The ST3GAL family is a good case in point. We recently reported a patient with a pathogenic variant in ST3GAL3 13 . Pathogenic variants in both ST3GAL5 and ST3GAL3 are extremely rare; however, these reports show that the total number of cases of these two disorders is considerable.…”

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confidence: 99%

A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report

et al. 2021

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GM3 synthase deficiency is associated with salt and pepper developmental regression syndrome (SPDRS), a rare genetic disorder. Herein, we report the first Iranian patient with SPDRS. We detected a novel pathogenic variant of ST3GAL5 (NM_003896.4: c.1030_1031del, p.Ile344Cysfs*11). The proband had intellectual disability (ID), failure to thrive, cerebral atrophy, microcephaly, and atonic seizures. The main future challenge proceeding from the results of this study is the prenatal detection of the newly discovered variant; the next step would involve further studies to elucidate the phenotypic spectrum of SPDRS and detect new variants that could cause symptoms ranging from mild to severe.

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Section: Epigenetic Timing Effects On Neurodevelopmental Outcomesmentioning

confidence: 99%

“…Top DNAm sites at birth implicate, among others, genes involved in neural functions (e.g., myelination, neurotransmitter release). The most notable example is ST3GAL3: common variation in this gene has also been identified as a top GWAS hit for ADHD (Demontis et al, 2019;Klein et al, 2019), rare mutations of ST3GAL3 associate with cognitive and motor developmental delays (Khamirani et al, 2021), and ST3GAL3 knockout in mice results in profound cognitive deficits and hyperactivity due to myelination disruption (Rivero et al, 2021). Similar epigenetic timing effects (i.e., where prospective associations at birth show overall a stronger signal in EWAS results than cross-sectional associations in childhood) have also been observed for other neurodevelopmental phenotypes (e.g., social communication deficits (Rijlaarsdam et al, 2021)), but not for broader child mental (e.g., general psychopathology (Rijlaarsdam et al, 2022), sleep problems (Sammallahti et al, 2022)) or physical (e.g., BMI; Vehmeijer et al, 2020) health outcomes, despite studies using largely overlapping data, which points to a degree of phenotypic specificity.…”

Section: Epigenetic Timing Effects On Neurodevelopmental Outcomesmentioning

confidence: 99%

Epigenetics applied to child and adolescent mental health: Progress, challenges and opportunities

2022

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Background: Epigenetic processes are fast emerging as a promising molecular system in the search for both biomarkers and mechanisms underlying human health and disease risk, including psychopathology. Methods:In this review, we discuss the application of epigenetics (specifically DNA methylation) to research in child and adolescent mental health, with a focus on the use of developmentally sensitive datasets, such as prospective, population-based cohorts. We look back at lessons learned to date, highlight current developments in the field and areas of priority for future research. We also reflect on why epigenetic research on child and adolescent mental health currently lags behind other areas of epigenetic research and what we can do to overcome existing barriers. Results:To move the field forward, we advocate for the need of large-scale, harmonized, collaborative efforts that explicitly account for the time-varying nature of epigenetic and mental health data across development. Conclusion:We conclude with a perspective on what the future may hold in terms of translational applications as more robust signals emerge from epigenetic research on child and adolescent mental health.

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Phenotype of ST3GAL3 deficient patients: A case and review of the literature

Cited by 13 publications

References 21 publications

Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review

Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review

A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report

Epigenetics applied to child and adolescent mental health: Progress, challenges and opportunities

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