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| Intellectual disability v8.156 | HMGXB4 |
Arina Puzriakova gene: HMGXB4 was added gene: HMGXB4 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: HMGXB4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGXB4 were set to 39166056 Phenotypes for gene: HMGXB4 were set to Intellectual disability, developmental delay, and dysmorphic features Added comment: PMID: 39166056 (2024) report three affected individuals from a single family with ID/GDD, obesity and dysmorphic facial features. WGS revealed a homozygous frameshift variant (c.1193_1196del; p.(Lys398Argfs*25)) in exon 5 of the HMGXB4 gene which completely segregated with disease. RT-qPCR revealed a substantial decrease in the HMGXB4 gene expression in affected individuals as compared to unaffected individuals of the family. Rating Red for now as only a single family has been identified to date. Sources: Literature |
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