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Genetic Variations in the CNTNAP2 Gene and Their Association with Autism Spectrum Disorder | ||
| Al-Kunooze Scientific Journal | ||
| Volume 12, Issue 3, July 2026, Pages 200-213 PDF (1.08 M) | ||
| Document Type: Original Article | ||
| DOI: 10.36582/ksj.2026.169939.1035 | ||
| Author | ||
| Hakima Tuma | ||
| University of Mysan | ||
| Abstract | ||
| Autism spectrum ailment (ASD) is a complex neurodevelopmental disease with a strong genetic element, in which non-coding and regulatory versions play an essential position. This take a look at investigated the spectrum and useful relevance of CNTNAP2 variations in 10 ASD sufferers in comparison with 10 age-matched wholesome controls. Targeted sequencing of genomic DNA diagnosed a complete of 75 editions in ASD sufferers and 39 variations in controls, with a median of 7.5 versions in step with ASD character versus 3.9 in step with manage. Variants have been categorized primarily based on genomic area, anticipated useful effect, and Zygosity. Among those, 18 variations have been shared between each corporations, predominantly intronic (n = 9) or 3′ untranslated area (3′UTR; n = 8), and have been largely heterozygous in patients but homozygous in controls. Eleven variants had been particular to ASD patients, consisting of six intronic variations (rs2710102, rs2373284, rs13241417, rs700308, rs2074714, rs77706740), 3 splice-vicinity variations (rs10240482, rs72268642, rs60451214), and two synonymous editions (rs10240503: Ser760Ser, rs9648691: Ala1241Ala). Notably, splice-area and homozygous intronic editions have been exclusively discovered in ASD sufferers, suggesting potential disruption of RNA splicing and transcriptional regulation.Variant-stage affiliation analysis confirmed that character variants did now not attain statistical importance (OR ≈ 3.Five, 95% CI: 0.12–one hundred and one, P = zero.30). In evaluation, burden-level analysis revealed a huge enrichment of functional variants in ASD patients (n = five vs. Zero; OR = 9.2, P = zero.04) and ASD-specific editions (n = 11 vs. 0; OR = 15.0, P = zero.02), indicating a cumulative contribution of uncommon and potentially purposeful variations to ASD susceptibility. These findings spotlight the importance of regulatory, synonym | ||
| Keywords | ||
| CNTNAP2, 3′ UTR variants, Genetic variants, Autism Spectrum Disorder (ASD) | ||
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