Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.

ABSTRACT: (1) Hypophosphatasia (HPP) is a rare inherited disease caused by mutations (pathogenic variants) in the ALPL gene which encodes tissue-nonspecific alkaline phosphatase (TNSALP). HPP is characterized by impaired bone mineral metabolism due to the low enzymatic activity of TNSALP. Knowledge about the structure of the gene and the features and functions of various ALPL gene variants, taking into account population specificity, gives an understanding of the hereditary nature of the disease, and contributes to the diagnosis, prevention, and treatment of the disease. The purpose of the study was to describe the spectrum and analyze the functional features of the ALPL gene variants, considering various HPP subtypes and clinical symptoms in Russian children. (2) From 2014−2021, the study included

SUBMITTER: Glotov OS 

PROVIDER: S-EPMC9654387 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature