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| Mendeliome v1.4293 | CTSO |
Rylee Peters gene: CTSO was added gene: CTSO was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CTSO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTSO were set to 41508845 Phenotypes for gene: CTSO were set to Brain aneurysm, MONDO:0005291, CTSO-related Review for gene: CTSO was set to RED Added comment: PMID:41508845 reports 9 individuals from 2 unrelated families with heterozygous missense CTSO variants presenting with familial intracranial aneurysm; an additional 8 relatives were heterozygous for a CTSO variant but had no intracranial aneurysm; 16 unaffected relatives did not have a CTSO variant. The two missense variants identified in these families are present in gnomAD v4, p.(Val316Ile) with 84 hets, p.(Ala43Val) with 683 hets, 1 hom. In‑vitro VSMC knock‑down and mutant‑expression assays showed reduced CTSO secretion, increased fibronectin deposition, increased cell stiffness; but a causal relationship between CTSO variants and intracranial aneurysm has not been demonstrated in an in‑vivo model Sources: Literature |
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