Association of Gene Dosage With Meniere Disease and Related Audiovestibular Phenotypes in X-Linked Hypophosphatemia

In X-linked hypophosphatemia (XLH), caused by gene mutations, do some patients develop Meniere disease with endolymphatic sac hypoplasia (MD-hp), and what factors are associated with increased susceptibility?In this cross-sectional study of 33 patients with XLH, 6 hemizygous males with loss-of-function variants developed MD-hp at a prevalence far exceeding population estimates. In contrast, males with mosaic or hypomorphic variants and heterozygous females showed milder audiovestibular phenotypes..These results suggest a gene-dosage threshold model for MD-hp development in XLH, highlighting the need for early auditory and vestibular screening in affected individuals and paving the way for targeted interventions.

Corresponding Authors: Divya A. Chari, MD (divya_chari@meei.harvard.edu), and Andreas H. Eckhard, MD (andreas_eckhard@meei.harvard.edu), Department of Otolaryngology–Head and Neck Surgery, Harvard Medical School, 243 Charles St, Boston, MA 02114.

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