The New CIC Mutation Associates with Mental Retardation and Severity of Seizure in Turkish Child with a Rare Class I Glucose-6-Phosphate Dehydrogenase Deficiency

Alagöz, Meryem; Kherad, Nasim; Gunger, Ezgi; Kaymaz, Selin; Yüksel, Adnan

doi:10.1007/s12031-020-01614-8

Cited by 4 publications

(2 citation statements)

References 30 publications

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“… 29 Rs770702363, found in the ACY1, is associated with aminoacylase 1 deficiency. 30 In addition, several genes, previously linked to hematological disorders, are also associated with HBB, 31 G6BD 32 - 34 and ABCG5, 35 were identified in several populations, including Saudi, with a higher MAF compared to the other variants ( Table 1 ).…”

Section: Discussionmentioning

confidence: 99%

Common disease-associated gene variants in a Saudi Arabian population

et al. 2022

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BACKGROUND: Screening programs for the most prevalent conditions occurring in a country is an evidence-based prevention strategy. The burden of autosomal recessive disease variations in Saudi Arabia is high because of the highly consanguineous population. The optimal solution for estimating the carrier frequency of the most prevalent diseases is carrier screening. OBJECTIVES: Identify the most influential recessive alleles associated with disease in the Saudi population. DESIGN: We used clinical whole-exome sequencing data from an in-house familial database to evaluate the most prevalent genetic variations associated with disease in a Saudi population. SETTINGS: King Abdullah International Medical Research Center (KAIMRC) and King Abdulaziz Medical City. METHODS: Whole exome sequencing data obtained from clinical studies of family members, a cohort of 1314 affected and unaffected individuals, were filtered using the in-house pipeline to extract the most prevalent variant in the dataset. MAIN OUTCOME MEASURES: Most prevalent genetic variations associated with disease in the Saudi population. SAMPLE SIZE: 1314 affected and unaffected individuals. RESULTS: We identified 37 autosomal recessive variants and two heterozygous X-linked variants in 35 genes associated with the most prevalent disorders, which included hematologic (32%), endocrine (21%), metabolic (11%) and immunological (10%) diseases. CONCLUSION: This study provides an update of the most frequently occurring alleles, which support future carrier screening programs. LIMITATIONS: Single center that might represent the different regions but may be biased. In addition, most of the families included in the database are part of the proband's genetic identification for specific phenotypes. CONFLICT OF INTEREST: None.

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Section: Discussionmentioning

confidence: 99%

Common disease-associated gene variants in a Saudi Arabian population

et al. 2022

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“…Six3 participates in anterior brain formation through the modulation of Wnt1 and Shh 31 . In the HMG/Sox category, SOX10 plays a major role in neural crest and peripheral nervous system development 32,33 while mutations in the CIC genes have been associated with brain tumor, epilepsy and mental retardation 34,35 . Finally, our analysis reveals srcap, a AT hook TF acting upstream of the Notch pathway.…”

Section: Dysregulated Transcription Factors During Neurodevelopmentmentioning

confidence: 99%

Maternal auts2a contribution is a major intergenerational driver of neurodevelopment and behavior

Clément¹,

Merdrignac²,

Brionne³

et al. 2023

Preprint

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AUTS2 gene has been associated with numerous human pathologies including autism. The respective importance of its maternal and paternal contribution remains however unknown. Here we show using a vertebrate model that the lack of maternal, but not paternal, gene contribution triggers reduced embryonic survival and long-term macroscopic and behavioral differences, including reduced head size and reduced environment recognition abilities and anxiety. Maternal auts2 modulates maternally-inherited factors that control, in turn, early embryonic gene expression through transcriptional and post-transcriptional regulations, and ultimately regulate numerous transcription factors and evolutionarily conserved signaling pathways during neurodevelopment. We observed a significant enrichment in genes associated with human neuropathologies among genes that are under maternal auts2control. We report that AUTS2 belongs to a group of 45 evolutionarily-conserved maternally-expressed genes associated with behavior and neurodevelopment in vertebrates and linked to a diversity of human diseases. These results shed new light on intergenerational determinism of neurodevelopment and behavior in vertebrates, including in the context of human pathologies associated with AUTS2.

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