Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia.

ABSTRACT: Background: Hypophosphatasia (HPP) is an autosomal genetic disorder characterized biochemically by abnormal of bone parameters and serum alkaline phosphatase (ALP) activity as well as clinically by deficiency of teeth and bone mineralization. The clinical presentation is a continuum ranging from a prenatal lethal form with no skeletal mineralization to a mild form with late adult onset presenting with non-pathognomonic symptoms. ALP deficiency is the key to the pathogenesis of abnormal metabolism and skeletal system damage in HPP patients. Methods: We investigated five patients with skeletal dysplasia in the clinic. Whole-exome sequencing was performed in order to aid diagnosis of the patients. Results: Eight variants in the ALPL gene in the five unrelated Chine

SUBMITTER: Zhang Q 

PROVIDER: S-EPMC8546181 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature