Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease.
Sarah J EgerYann Le GuenRaiyan R KhanJacob N HallGabriel KennedyGreg ZaharchukJulien CouthouisWilliam S BrooksDennis VelakoulisValerio NapolioniMichael E BelloyCliffton L DalgardElizabeth C MorminoAaron D GitlerMichael D GreiciusPublished in: Neurology. Genetics (2021)
The results presented here, in conjunction with the prior report, confirm the pathogenicity of F386L. Furthermore, our study highlights the importance of studying families from underrepresented populations to identify or confirm the pathogenicity of rare variants that may be specific to certain genetic ancestries.