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RNA-first Approach Identifies Deep Intronic PHEX Variants in X-linked Hypophosphatemic Rickets

8 Nov 2024

Abstract excerpt

CONTEXT: Up to 20% of patients with X-linked hypophosphatemic rickets (XLH) have no causative variant identified on routine molecular diagnostic testing. OBJECTIVE: To identify intronic variants causing PHEX mis-splicing in patients with XLH. SETTING: The metabolic bone clinic of a pediatric orthopedic hospital. PARTICIPANTS: Four patients (age 6 to 12 years; 3 girls) with clinically diagnosed XLH and no PHEX...

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PMID: 39512182
DOI: 10.1210/clinem/dgae785

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