Genetic Etiology of Autism

Fett‐Conte, Agnes Cristina; Bossolani-Martins, A.L.; Pereira-Nascimento, Patrícia

doi:10.5772/53106

Cited by 3 publications

(2 citation statements)

References 146 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is well known that ASD complexities may be subjected to the multiple heterogeneity threshold or dosage ( Schaaf et al, 2011 ; Cristina et al, 2013 ), where affected subjects may inherit different genetic risks (either novel or de novo mutations) in known genes, as well as chromosomal anomalies (CNV). Together these genetic risks may contribute as additive interacting factors to ASD-threshold ( Cook and Scherer, 2008 ).…”

Section: Discussionmentioning

confidence: 99%

The genetic landscape of autism spectrum disorder in the Middle Eastern population

Al-Sarraj,

Taha,

Al-Dous

et al. 2024

Front. Genet.

View full text Add to dashboard Cite

Introduction: Autism spectrum disorder (ASD) is characterized by aberrations in social interaction and communication associated with repetitive behaviors and interests, with strong clinical heterogeneity. Genetic factors play an important role in ASD, but about 75% of ASD cases have an undetermined genetic risk.Methods: We extensively investigated an ASD cohort made of 102 families from the Middle Eastern population of Qatar. First, we investigated the copy number variations (CNV) contribution using genome-wide SNP arrays. Next, we employed Next Generation Sequencing (NGS) to identify de novo or inherited variants contributing to the ASD etiology and its associated comorbid conditions in families with complete trios (affected child and the parents).Results: Our analysis revealed 16 CNV regions located in genomic regions implicated in ASD. The analysis of the 88 ASD cases identified 41 genes in 39 ASD subjects with de novo (n = 24) or inherited variants (n = 22). We identified three novel de novo variants in new candidate genes for ASD (DTX4, ARMC6, and B3GNT3). Also, we have identified 15 de novo variants in genes that were previously implicated in ASD or related neurodevelopmental disorders (PHF21A, WASF1, TCF20, DEAF1, MED13, CREBBP, KDM6B,SMURF1, ADNP, CACNA1G, MYT1L, KIF13B, GRIA2, CHM, and KCNK9). Additionally, we defined eight novel recessive variants (RYR2, DNAH3, TSPYL2, UPF3B KDM5C, LYST, and WNK3), four of which were X-linked.Conclusion: Despite the ASD multifactorial etiology that hinders ASD genetic risk discovery, the number of identified novel or known putative ASD genetic variants was appreciable. Nevertheless, this study represents the first comprehensive characterization of ASD genetic risk in Qatar's Middle Eastern population.

show abstract

Section: Discussionmentioning

confidence: 99%

The genetic landscape of autism spectrum disorder in the Middle Eastern population

Al-Sarraj,

Taha,

Al-Dous

et al. 2024

Front. Genet.

View full text Add to dashboard Cite

show abstract

“…Through massive next-generation sequencing efforts, de novo point mutations in over 102 genes are now robustly associated with ASD 9 . Yet, mutations in these genes still explain a minority of cases 10 , and recent studies suggest many specific mutations leading to ASD remain to be found 11,12 .…”

Section: Introductionmentioning

confidence: 99%

Genome-wide patterns ofde novotandem repeat mutations and their contribution to autism spectrum disorders

Mitra

Huang

Mousavi

et al. 2020

Preprint

View full text Add to dashboard Cite

Recent studies have demonstrated a strong contribution of germline de novo mutations to autism spectrum disorders (ASD). Tandem repeats (TRs), consisting of repeated sequence motifs of 1-20bp, comprise one of the largest sources of human genetic variation. Yet, the contribution of TR mutations to ASD has not been assessed on a genome-wide scale. Here, we leverage novel bioinformatics tools and~35 × whole genome sequencing of~1,600 families from the Simons Simplex Collection (SSC) to analyze germline de novo TR mutations at nearly 1 million loci in ASD-affected and unaffected siblings. We identify an average of 54 high-confidence mutations per child at an estimated true positive rate of 90%. We find novel genome-wide TR mutation patterns, including a bias toward larger mutations from the maternal compared with paternal germlines. We demonstrate a significant genome-wide excess of TR mutations in ASD probands, which are significantly larger than in controls, enriched in promoters of fetal brain expressed genes, and more strongly predicted to alter expression during brain development. Overall, our results indicate a significant, but so far overlooked, contribution of repetitive regions to ASD.

show abstract

Optimized Deep Convolutional Neural Network for Autism Spectrum Disorder Detection Using Structural MRI and DTPSO

Sravani,

Kuppusamy

2024

IEEE Access

View full text Add to dashboard Cite

Genetic Etiology of Autism

Cited by 3 publications

References 146 publications

The genetic landscape of autism spectrum disorder in the Middle Eastern population

The genetic landscape of autism spectrum disorder in the Middle Eastern population

Genome-wide patterns ofde novotandem repeat mutations and their contribution to autism spectrum disorders

Optimized Deep Convolutional Neural Network for Autism Spectrum Disorder Detection Using Structural MRI and DTPSO

Contact Info

Product

Resources

About