Mornet E. Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations. Subcell Biochem. 2015;76:25-43 pubmed publisher
..In addition, other genes, especially genes encoding proteins involved in the regulation of extracellular PPi concentration, could modify the phenotype (modifier genes). ..
Taillandier A, Domingues C, De Cazanove C, Porquet Bordes V, Monnot S, Kiffer Moreira T, et al. Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. Mol Genet Metab. 2015;116:215-20 pubmed publisher
..Interestingly, three of these patients were adults with fractures and/or low BMD. Our results indicate that HPP and OI may be easily misdiagnosed in the prenatal stage but also in adults with mild symptoms for these diseases. ..
..Enzyme replacement therapy is now available for HPP, and other approaches, such as gene therapy, are currently being investigated. ..
Taillandier A, Domingues C, Dufour A, Debiais F, Guggenbuhl P, Roux C, et al. Genetic analysis of adults heterozygous for ALPL mutations. J Bone Miner Metab. 2018;36:723-733 pubmed publisher
..These preliminary results support COL1A2 as a modifier gene of HPP and suggest that a significant proportion of adult heterozygotes for ALPL mutations may have unspecific symptoms not attributable to their heterozygosity. ..