AI Article Synopsis
- Intellectual disability (ID) is significantly influenced by genetic factors, with 50% of cases linked to hereditary causes.
- Researchers studied two related families from Pakistan with severe ID and developmental delays, using whole exome sequencing to identify genetic variants.
- They discovered harmful variants in the genes MBOAT7 and TRAPPC9, which are new contributors to the understanding of the genetic causes of ID.
Article Abstract
Intellectual disability (ID) is a condition of significant limitation of cognitive functioning and adaptive behavior, with 50% of etiology attributed to genetic predisposition. We recruited two consanguineous Pakistani families manifesting severe ID and developmental delay. The probands were subjected to whole exome sequencing (WES) and variants were further prioritized based on population frequency, predicted pathogenicity and functional relevance. The WES data analysis identified homozygous pathogenic variants in genes and . The pathogenicity of the variants was supported by co-segregation analysis and in silico tool. The findings of this study expand mutation spectrum and provide additional evidence to the role of MBOAT7 and TRAPPC9 in causation of ID.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858807 | PMC |
| http://dx.doi.org/10.3390/genes14010048 | DOI Listing |
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