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| Mendeliome v1.4064 | DUSP1 | Zornitza Stark Marked gene: DUSP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4064 | DUSP1 | Zornitza Stark Gene: dusp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4064 | DUSP1 |
Zornitza Stark gene: DUSP1 was added gene: DUSP1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DUSP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DUSP1 were set to 40359362 Phenotypes for gene: DUSP1 were set to Hereditary palmoplantar keratoderma, MONDO:0019272, DUSP1-related Review for gene: DUSP1 was set to RED Added comment: PMID 40359362 reports four individuals from two unrelated families with heterozygous and homozygous missense variants in DUSP1 presenting with semidominant palmoplantar keratoderma, focal hyperkeratosis, and, in homozygotes, severe PPK with hearing loss. Functional assays in primary keratinocytes and 3‑D skin equivalents demonstrate reduced DUSP1 protein, increased ERK1/2 phosphorylation, and rescue by ERK1/2 inhibition. The inheritance is postulated to be semidominant (monoallelic and biallelic) with dose‑dependent severity -- one family has two heterozygous individuals (insufficient segregation) and second family has a more severely affected homozygous individual and affected parent. Sources: Literature |
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