Agenesis of the corpus callosum in mosaic tetrasomy 8p

Wilson, Brian T.; Harikumar, C; Fisher, Richard

doi:10.1097/mcd.0b013e32833c5efa

Cited by 2 publications

(2 citation statements)

References 14 publications

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“…The 8p inverted duplication/deletion is one of the most common and results in brain malformations including ACC and speech problems (O'Driscoll et al, 2010). Fifteen cases of mosaic tetrasomy of 8p have also been described, of which ACC was identified in 10 ( Wilson et al, 2010). A recent review of the imaging literature confirmed ACC in 25% of published 8p rearrangements reported with callosal agenesis (O'Driscoll et al, 2010), although variations in penetrance exist depending on the type of rearrangement.…”

Section: Agenesis Of the Corpus Callosum As A Results Of Copy Number Variationsmentioning

confidence: 99%

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

Edwards

Sherr²,

Barkovich

et al. 2014

Brain

306

297

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The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral hemispheres, and thereby facilitating the integration of motor and sensory information from the two sides of the body as well as influencing higher cognition associated with executive function, social interaction and language. Agenesis of the corpus callosum is a common brain malformation that can occur either in isolation or in association with congenital syndromes. Understanding the causes of this condition will help improve our knowledge of the critical brain developmental mechanisms required for wiring the brain and provide potential avenues for therapies for callosal agenesis or related neurodevelopmental disorders. Improved genetic studies combined with mouse models and neuroimaging have rapidly expanded the diverse collection of copy number variations and single gene mutations associated with callosal agenesis. At the same time, advances in our understanding of the developmental mechanisms involved in corpus callosum formation have provided insights into the possible causes of these disorders. This review provides the first comprehensive classification of the clinical and genetic features of syndromes associated with callosal agenesis, and provides a genetic and developmental framework for the interpretation of future research that will guide the next advances in the field.

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Section: Agenesis Of the Corpus Callosum As A Results Of Copy Number Variationsmentioning

confidence: 99%

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

Edwards

Sherr²,

Barkovich

et al. 2014

Brain

306

297

View full text Add to dashboard Cite

show abstract

“…Tetrasomy 8p is a very rare chromosomal abnormality. To our knowledge, only 15 patients have been reported, all of them presenting a mosaic isochromosome 8p detected postnatally [ 66 ]. Thus, this would be the first report of a patient presenting a non-mosaic partial tetrasomy 8p.…”

Section: Discussionmentioning

confidence: 99%

Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease

Delea

Massara²,

Espeche³

et al. 2022

Genes

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Congenital anomalies (CA) affect 3–5% of newborns, representing the second-leading cause of infant mortality in Argentina. Multiple congenital anomalies (MCA) have a prevalence of 2.26/1000 births in newborns, while congenital heart diseases (CHD) are the most frequent CA with a prevalence of 4.06/1000 births. The aim of this study was to identify the genetic causes in Argentinian patients with MCA and isolated CHD. We recruited 366 patients (172 with MCA and 194 with isolated CHD) born between June 2015 and August 2019 at public hospitals. DNA from peripheral blood was obtained from all patients, while karyotyping was performed in patients with MCA. Samples from patients presenting conotruncal CHD or DiGeorge phenotype (n = 137) were studied using MLPA. Ninety-three samples were studied by array-CGH and 18 by targeted or exome next-generation sequencing (NGS). A total of 240 patients were successfully studied using at least one technique. Cytogenetic abnormalities were observed in 13 patients, while 18 had clinically relevant imbalances detected by array-CGH. After MLPA, 26 patients presented 22q11 deletions or duplications and one presented a TBX1 gene deletion. Following NGS analysis, 12 patients presented pathogenic or likely pathogenic genetic variants, five of them, found in KAT6B, SHH, MYH11, MYH7 and EP300 genes, are novel. Using an algorithm that combines molecular techniques with clinical and genetic assessment, we determined the genetic contribution in 27.5% of the analyzed patients.

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Agenesis of the corpus callosum in mosaic tetrasomy 8p

Cited by 2 publications

References 14 publications

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease

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