Autistic-Like Traits in Pena–Shokeir Syndrome

Kalınlı, Merve; Ekinci, Özalp; Güneş, Serkan; Ekinci, Nuran

doi:10.1007/s10803-018-3824-2

Cited by 1 publication

(1 citation statement)

References 13 publications

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“…Nevertheless, we identified 24 genes with de novo variants, 19 had established evidence or were predicted to be implicated in ASD, epilepsy, or intellectual disability. For instance, there were nine genes ( NLRP5 ( Docherty et al, 2015 ), DRD5 ( Nguyen et al, 2014 ), TCF20 ( Vetrini et al, 2019 ), DEAF1 ( Satterstrom et al, 2020 ), CREBBP ( Zheng et al, 2016 ), KDM6B ( Stolerman et al, 2019 ), ABCA2 (O’ Roak et al, 2012), MYT1L ( Blanchet et al, 2017 ), and CHRNG ( Kalınlı et al, 2019 ) that strongly associated with the Qiagen Clinical Insights (QCI) phenotype-driven ranking scores. Furthermore, we assessed the strength of evidence for our potential candidate identified ASD genes by comparing them with the SFARI database.…”

Section: Resultsmentioning

confidence: 99%

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

Al-Sarraj,

Taha,

Al-Dous

et al. 2024

Front. Genet.

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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.

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