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Article

Functional and In Silico Characterization of ALPL Gene Variants Reveals Genotype-Phenotype Correlations in Italian Hypophosphatasia Patients.

Cells - 11 Nov 2025

Casamassima Giulia, Grieco Anna Maria, Biagini Tommaso, Buono Giorgia, Cinque Luigia, Pugliese Flavia, Guerra Francesco Pio, Petrizzelli Francesco, Mastroianno Mario, Mazza Tommaso, Castori Marco, Scillitani Alfredo, Guarnieri Vito

Abstract excerpt

Background. Hypophosphatasia (HPP) is a rare genetic disorder caused by impaired tissue non-specific alkaline phosphatase (ALPL/TNSALP) activity that impacts the musculoskeletal and neurological systems. It is extremely variable, with up to six forms of increasing severity. The large phenotypic variability and the still remaining high number of variants of uncertain significance (VUS) in the ALPL gene represent a...

Read the complete abstract on PubMed

Topics

Hypophosphatasia
Humans
Alkaline Phosphatase
Genetic Association Studies
Computer Simulation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Italy

Female

Male

Mutation

Phenotype

Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 41294821
DOI: 10.3390/cells14221768
PMCID: PMC12651241

Genes

ALPL

Provenance

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