Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort
Our study highlights HPP's diverse phenotypes and genotypes in Saudi Arabia, revealing distinct <i>ALPL</i> mutations. We identified a high prevalence of consanguinity and family histories of HPP. Treatment with asfotase alfa was generally effective and safe.
Authors
- Afnan Alawi
- Raghad Alhuthil (ORCID: https://orcid.org/0000-0001-6677-0452)
- Hassan Alsayed
- Eissa Faqeih (ORCID: https://orcid.org/0000-0002-3123-1704)
- Afaf Alsagheir
- Mariam AlOtaibi
- Abrar Turki Alabdullatif
- Amal AlJohany
- Ali Mcrabi
- Magdy Rabea
- Doua Al Homyani
- Mohamed H. Al-Hamed
- Meshari Alquayt
Institutions
- Taif University (SA)
- King Faisal Specialist Hospital & Research Centre (SA)
- King Fahd Medical City (SA)
- King Fahad Specialist Hospital (SA)
- Maternity and Children's Hospital (SA)
- AstraZeneca (France) (FR)
- AstraZeneca (Poland) (PL)
- King Fahad Hospital Jeddah (SA)
- Center for Genomic Science (IT)
- King Fahad Hospital Hufūf (SA)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2026-01-13
- DOI
- https://doi.org/10.3389/fgene.2025.1715818
- Primary Topic
- Alkaline Phosphatase Research Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- King Fahad Medical City