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hrp0097fc2.2 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

First Results of the Global ALPL Gene Variant Classification Project

R Farman Mariam , Rehder Catherine , Malli Theodora , Rockman-Greenberg Cheryl , Dahir Kathryn , Ángel Martos-Moreno Gabriel , Linglart Agnès , Ozono Keiichi , Seefried Lothar , del Angel Guillermo , Högler Florian , Barbazza Francesca , K John Lisa , M. A. Delana Mudiyanselage Sewmi , Burner Nading Erica , Huggins Erin , T Rush Eric , El-Gazzar Ahmed , S Kishnani Priya , Webersinke Gerald , Högler Wolfgang

Background: Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase. A major challenge in diagnosing HPP is interpreting variants in ALPL classified as variants of uncertain significance (VUS) according to ACMG/AMP criteria, creating uncertainty in patients and treating physicians resulting in d...

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First Results of the Global ALPL Gene Variant Classification Project

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