Independent variant analysis of <i><scp>TEAD</scp>1</i> and <i><scp>OCEL</scp>1</i> in 38 Aicardi syndrome patients

Wong, Bibiana K. Y.; Sutton, V. Reid; Lewis, Richard A.; Veyver, Ignatia B. Van den

doi:10.1002/mgg3.250

Cited by 7 publications

(5 citation statements)

References 24 publications

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“…A study identified a TEAD1 variant in one individual with Aicardi syndrome, out of a cohort of ten (Schrauwen et al, 2015). In contrast, a second study consisting of 38 individuals did not identify any TEAD1 variants (Wong et al, 2017). Modelling this mutation in rodent models could enable researchers to determine whether this TEAD1 variant contributes to Aicardi-related phenotypes in mice.…”

Section: Dysregulation Of Teads Results In Cancer and Other Diseasesmentioning

confidence: 99%

TEAD family transcription factors in development and disease

2021

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The balance between stem cell potency and lineage specification entails the integration of both extrinsic and intrinsic cues, which ultimately influence gene expression through the activity of transcription factors. One example of this is provided by the Hippo signalling pathway, which plays a central role in regulating organ size during development. Hippo pathway activity is mediated by the transcriptional co-factors Yes-associated protein (YAP) and transcriptional co-activator with PDZ-binding motif (TAZ), which interact with TEA domain (TEAD) proteins to regulate gene expression. Although the roles of YAP and TAZ have been intensively studied, the roles played by TEAD proteins are less well understood. Recent studies have begun to address this, revealing that TEADs regulate the balance between progenitor self-renewal and differentiation throughout various stages of development. Furthermore, it is becoming apparent that TEAD proteins interact with other co-factors that influence stem cell biology. This Primer provides an overview of the role of TEAD proteins during development, focusing on their role in Hippo signalling as well as within other developmental, homeostatic and disease contexts.

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Section: Dysregulation Of Teads Results In Cancer and Other Diseasesmentioning

confidence: 99%

TEAD family transcription factors in development and disease

2021

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“…It was previously thought to be caused by mutations in the TEAD1 (11p15.3; MIM 189967) gene. However, in 2017, a study on 38 AIC subjects identified the TEAD1 variant in only one patient, which suggested the contribution of other genes in the development of this condition [ 39 ]. Due to the lack of precise genetic or molecular possibilities for AIC identification, the diagnosis is mainly based on imaging and clinical symptoms, particularly disc anomalies (drusen, pigmented and morning glory discs) [ 38 ].…”

Section: Resultsmentioning

confidence: 99%

Corpus Callosum Agenesis: An Insight into the Etiology and Spectrum of Symptoms

et al. 2020

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Brain hemispheres are connected by commissural structures, which consist of white matter fiber tracts that spread excitatory stimuli to various regions of the cortex. This allows an interaction between the two cerebral halves. The largest commissure is the corpus callosum (CC) which is located inferior to the longitudinal fissure, serving as its lower border. Sometimes this structure is not completely developed, which results in the condition known as agenesis of the corpus callosum (ACC). The aim of this paper was to review the latest discoveries related to the genetic and metabolic background of ACC, including the genotype/phenotype correlations as well as the clinical and imaging symptomatology. Due to various factors, including genetic defects and metabolic diseases, the development of CC may be impaired in many ways, which results in complete or partial ACC. This creates several clinical implications, depending on the specificity of the malformation and other defects in patients. Epilepsy, motor impairment and intellectual disability are the most prevalent. However, an asymptomatic course of the disease is even more common. ACC presents with characteristic images on ultrasound and magnetic resonance imaging (MRI).

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“…Interestingly, in most of our patients with the most severe basal ganglia dysmorphisms, genetic analysis excluded tubulinopathies. 23 Karyotype analysis, 3 investigation of candidate genes (FLNA, TEAD1, OCEL1), [24][25][26] methylation array, 27 and, more recently, advanced genetic analysis in the form of exome sequencing, 23 carried out by different research groups, have thus far failed to solve the genetic puzzle of AIC. The severe and diffuse involvement of multiple brain structures observed in our large cohort resembles the broad spectrum of findings in tubulinopathies.…”

Section: Discussionmentioning

confidence: 99%

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome

Masnada¹,

Pichiecchio²,

Formica³

et al. 2021

Neurology

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ObjectiveAiming to detect associations between neuroradiologic and EEG evaluations and long-term clinical outcome in order to detect possible prognostic factors, a detailed clinical and neuroimaging characterization of 67 cases of Aicardi syndrome (AIC), collected through a multicenter collaboration, was performed.MethodsOnly patients who satisfied Sutton diagnostic criteria were included. Clinical outcome was assessed using gross motor function, manual ability, and eating and drinking ability classification systems. Brain imaging studies and statistical analysis were reviewed.ResultsPatients presented early-onset epilepsy, which evolved into drug-resistant seizures. AIC has a variable clinical course, leading to permanent disability in most cases; nevertheless, some cases presented residual motor abilities. Chorioretinal lacunae were present in 86.56% of our patients. Statistical analysis revealed correlations between MRI, EEG at onset, and clinical outcome. On brain imaging, 100% of the patients displayed corpus callosum malformations, 98% cortical dysplasia and nodular heterotopias, and 96.36% intracranial cysts (with similar rates of 2b and 2d). As well as demonstrating that posterior fossa abnormalities (found in 63.63% of cases) should also be considered a common feature in AIC, our study highlighted the presence (in 76.36%) of basal ganglia dysmorphisms (never previously reported).ConclusionThe AIC neuroradiologic phenotype consists of a complex brain malformation whose presence should be considered central to the diagnosis. Basal ganglia dysmorphisms are frequently associated. Our work underlines the importance of MRI and EEG, both for correct diagnosis and as a factor for predicting long-term outcome.Classification of evidenceThis study provides Class II evidence that for patients with AIC, specific MRI abnormalities and EEG at onset are associated with clinical outcomes.

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Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients

Cited by 7 publications

References 24 publications

TEAD family transcription factors in development and disease

TEAD family transcription factors in development and disease

Corpus Callosum Agenesis: An Insight into the Etiology and Spectrum of Symptoms

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome

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