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Utility of genetic testing for prenatal presentations of hypophosphatasia.

Abstract
Hypophosphatasia (HPP) is a rare inherited disease affecting bone and dental mineralization due to loss-of-function mutations in the ALPL gene encoding the tissue nonspecific alkaline phosphatase (TNSALP). Prenatal benign HPP (PB HPP) is a rare form of HPP characterized by in utero skeletal manifestations that progressively improve during pregnancy but often still leave symptoms after birth. Because the prenatal context limits the diagnostic tools, the main difficulty for clinicians is to distinguish PB HPP from perinatal lethal HPP, the most severe form of HPP. We previously attempted to improve genotype phenotype correlation with the help of a new classification of variants based on functional testing. Among 46 perinatal cases detected in utero or in the neonatal period for whose ALPL variants could be classified, imaging alone was thought to clearly diagnose severe lethal HPP in 35 cases, while in 11 cases, imaging abnormalities could not distinguish between perinatal lethal and BP HPP. We show here that our classification of ALPL variants may improve the ability to distinguish between perinatal lethal and PB HPP in utero.
AuthorsBrian Sperelakis-Beedham, Agnès Taillandier, Christelle Domingues, Mihelaiti Guberto, Estelle Colin, Valérie Porquet-Bordes, Anya Rothenbuhler, Jean-Pierre Salles, Deborah Wenkert, Andreas Zankl, Christine Muti, Séverine Bacrot, Brigitte Simon-Bouy, Etienne Mornet
JournalMolecular genetics and metabolism (Mol Genet Metab) Vol. 132 Issue 3 Pg. 198-203 (03 2021) ISSN: 1096-7206 [Electronic] United States
PMID33549410 (Publication Type: Journal Article)
CopyrightCopyright © 2021 Elsevier Inc. All rights reserved.
Chemical References
  • ALPL protein, human
  • Alkaline Phosphatase
Topics
  • Alkaline Phosphatase (genetics)
  • Alleles
  • Female
  • Fetus (pathology)
  • Genetic Association Studies
  • Genetic Testing
  • Humans
  • Hypophosphatasia (diagnosis, diagnostic imaging, genetics, pathology)
  • Male
  • Mutation (genetics)
  • Pregnancy
  • Prenatal Diagnosis

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