Genetic insights into autism spectrum disorder with intellectual disability: a regional population-based study from...

To investigate the genetic etiology of autism spectrum disorder with Intellectual Disability in the Northwest China.

Whole-exome sequencing was conducted on 125 children admitted to Yinchuan First People's Hospital. Variants and associated pathogenic mechanisms were analyzed, as well as correlations between genotypes and clinical phenotypes. Forty-five positive cases were identified from 125 cases, yielding a positive detection rate of 36.0%, with a male-to-female ratio of 2:1. These included 8 cases with copy number variations and 37 cases of single-nucleotide variations/insertions and deletions. Chi-squared tests and False Discovery Rate adjust showed significant differences in gross motor developmental delay and abnormal electroencephalograms between the positive group and part of the negative group (q < 0.05). Further, there was a significant difference in autism spectrum disorder severity between the positive and negative groups (χ ² = 10.20, P < 0.01).

This study identified several pathogenic genes that have been rarely reported in the context of autism spectrum disorder. Patients with these genetic variants may present with more complex and severe clinical phenotypes.