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The Global ALPL gene variant classification project: Dedicated to deciphering variants.

Bone - 1 Jan 2024

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

Abstract excerpt

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 (TNSALP). Variants of uncertain significance (VUS) cause diagnostic delay and uncertainty amongst patients and health care providers. RESULTS: The ALPL gene variant database...

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PMID: 37898381
DOI: 10.1016/j.bone.2023.116947

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