Publications by authors named "Stephen Tennant"
Article Synopsis
- FEM1B is a key protein related to ubiquitin ligase complexes that influences various biological functions, including mitochondrial activity as a redox sensor, but its role in human disease is not well understood.
- Researchers identified individuals with a specific genetic variant in FEM1B and conducted clinical evaluations, along with experiments using model systems to analyze the variant's effects.
- The findings reveal that a recurrent mutation in FEM1B (p.(Arg126Gln)) leads to severe neurodevelopmental disorders and related physical abnormalities, suggesting that this variant causes dysfunctional activation of FEM1B that results in developmental issues.
The association of long QT syndrome and left ventricular noncompaction is uncommon, with only a handful of previous reports, and only one reported case in association with a mutation in KCNQ1. Here we present genetic and phenotypic data for 4 family members across 2 generations who all have evidence of prolonged QT interval and left ventricular noncompaction in association with a pathogenic mutation in KCNQ1, and discuss the potential mechanisms of this association. In conclusion, we suggest that it may be helpful to consider looking for mutations in KCNQ1 in similar patients.
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