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| Hydrocephalus_Ventriculomegaly v0.130 | AMOT |
Rylee Peters gene: AMOT was added gene: AMOT was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: AMOT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AMOT were set to 40892511 Phenotypes for gene: AMOT were set to Congenital hydrocephalus MONDO:0016349, AMOT-related Review for gene: AMOT was set to AMBER Added comment: 1x family with isolated X-linked congenital hydrocephalus – clinical presentation considered late, identified in the third trimester. Variant segregated with disease in 6x affected hemizygous males (4x live-born and 2x terminated male fetuses). Carrier females are apparently normal (no brain MRI was performed). Exome sequencing identified start loss variant, c.2T>C p.(Met1Thr). Functional analyses identify that the variant results in a protein lacking 91 amino acids from the N-terminus and leads to abnormally increased AMOT protein levels (increased stability due to loss of degradation signals), which disrupts epithelial and endothelial barrier integrity. Sources: Literature |
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