Six ALPL gene variants in five children with hypophosphatasia.

ABSTRACT:

Background

Hypophosphatasia (HPP) is a rare hereditary disorder characterized by defective bone and tooth mineralization caused by mutations in the alkaline phosphatase (ALPL) gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Here we performed clinical and molecular studies on 5 HPP children to investigate the pathogenic mechanisms of the ALPL gene variants.

Methods

Clinical and genetic analyses were performed on 5 HPP children, and the loci where ALPL variants were identified. Plasmids containing the relevant loci were constructed. The molecular and cellular mechanisms of the pathogenic ALPL variants were investigated by cellular immunofluorescence, enzyme activity assay, and protein expression assay.

Results

A total of 6

SUBMITTER: Su N 

PROVIDER: S-EPMC8184488 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature