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| Intellectual disability v10.85 | EIF1AX |
Julia Baptista gene: EIF1AX was added gene: EIF1AX was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: EIF1AX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: EIF1AX were set to PMID: 42337333 Phenotypes for gene: EIF1AX were set to intellectual disability Review for gene: EIF1AX was set to GREEN Added comment: PMID: 42337333- describes four de novo hemizygous EIF1AX variants (comprising three missense and one splice variant) in four male individuals exhibiting variable neurodevelopmental disorders, including developmental and language delays, autistic behavioral problems, and facial dysmorphisms. Functional studies using Drosophila models supported a LOF effect for (Lys64Glu) and p.(Asp90Gly) whilst no significant effect was seen for p.(Asn17Asp). Minigene analysis for the c.204 G > C showed aberrant mRNA splicing and a LOF allele. Sources: Literature |
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