Article

<i>PHEX</i> Gene Dosage Drives Meniere’s Disease and Related Audiovestibular Phenotypes in X-Linked Hypophosphatemia

2025-08-01

Abstract excerpt

<h4>Importance:</h4> A subset of Meniere’s disease (MD) patients—defined by endolymphatic sac underdevelopment (ES hypoplasia), frequent bilateral disease, and strong male predominance—termed “MD-hp”, has emerged as a promising model for genetic investigation. We observed a striking enrichment of X-linked hypophosphatemia (XLH) caused by PHEX mutations among MD-hp patients, suggesting a shared genetic driver and...

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Literature Corpus work: 783a46a0-b9cb-5013-ae0f-abf3274e2b15
DOI: 10.1101/2025.07.30.25332326

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