ArticleJournal of the Endocrine Society2024
Use of Whole-Exome Sequencing and Pedigree Analysis to Identify X-linked Hypophosphatemia in Saudi Arabian Families.
Article in Journal of the Endocrine Society, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- XLH Matters 2024 GCC Edition: Insights and Recommendations to Improve Outcomes for People Living With XLH in the Gulf Region.Clinical medicine insights. Endocrinology and diabetes · 2026Article
- Increased lifelong burden of comorbidities without increased early mortality in hereditary hypophosphatemia: a Danish register study.JBMR plus · 2025Article
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4 authors.
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Abstract
Context: X-linked hypophosphatemia (XLH) is the most common form of inherited hypophosphatemic rickets (HR), caused by pathogenic variants in the Objective: This study aimed to use whole-exome sequencing (WES) and pedigree analysis to identify patients with XLH. Methods: Medical records at a single center in Saudi Arabia were screened between 2014 and 2024 to identify patients with suggested HR. Of the 800 patients identified, 27 had had suspected XLH. The genetic study comprised 100 patients drawn from these 27 families. Results: Clinical manifestations were widespread and variable within families. Severe disease was reported in 55% of children and 25% of adults. At presentation, all children were receiving either conventional therapy (60%) or burosumab (40%); however, 53% of adults were not treated. WES provided a genetic diagnosis in 23 families: alterations in the Conclusion: WES detected a diagnostic molecular abnormality in 85% of families with HR phenotypes;
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