A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia.

ABSTRACT: Using genetic, clinical, biochemical, and radiographic assessment and bioinformatic approaches, we present an unusual case of adult HPP caused by a novel de novo heterozygous nonsense mutation in the alkaline phosphatase (ALPL).

Introduction

Hypophosphatasia (HPP) is caused by genetic alterations of the ALPL gene, encoding the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Here, the purpose was to perform clinical and molecular investigation in a 36-year-old Caucasian woman suspected to present adult HPP.

Methods

Medical and dental histories were obtained for the proposita and family members, including biochemical, radiographic, and dental assessments. ALPL mutational analysis was performed by the Sanger sequencing method, and the functional impact prediction of

SUBMITTER: Martins L 

PROVIDER: S-EPMC8214176 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature