Genetic diagnosis for a case of hypophosphatasia and the prenatal diagnosis of his sibling

Abstract

Hypophosphatasia is a rare hereditary metabolic bone disease caused by ALPL gene mutation. This papaer report the genetic diagnosis of a child with childhood hypophosphatasia, and the prenatal diagnosis of his sibling. We hope it can provide reference for clinical diagnosis and prenatal diagnosis of this disease. Key words: Hypophosphatasia; ALPL; Gene test; Prenatal diagnosis