P278: Molecular newborn screening uncovers hypophosphatasia in family members

Genetics in Medicine Open 2026 Open access

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Authors: Rai‐Hseng Hsu, Yi-Chen Huang, Chao-Szu Wu, Meng-Ju Melody Tsai, Hui‐An Chen, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Lee Ni‐Chung
DOI: 10.1016/j.gimo.2026.103772
Cited by: 0

Abstract

Hypophosphatasia (HPP) is a rare inherited metabolic disease. It is caused by variants in the ALPL gene, which leads to deficiency of alkaline phosphatase (ALP), resulting in impaired mineralization of bone and teeth. Since HPP presented with a broad spectrum of clinical manifestations, ranging from the perinatal lethal form to isolated dental problem, newborn genetic screening may facilitate timely detection and family counseling.

Fields of Study & Subjects

Alkaline Phosphatase Research Studies Metabolism and Genetic Disorders Parathyroid Disorders and Treatments

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103772–103772
Publication date
1 January 2026
Language
EN