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January 1, 2026Human MutationOpen Access

X‐Linked Hypophosphatemia Caused by a New Partial Insertion of LINE‐1 in the PHEX Gene

Dongmei Li Peng Wan Lu Kang Jia Geng Yu Lu Jing Lu

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Key Points

Investigate genetic causes of X-linked hypophosphatemia (XLH), focusing on new mutations.
Analyzed genetic mutations in XLH patients lacking known mutations.
Considered LINE-1 transposon insertions as potential causes.
Identified a new partial insertion of LINE-1 in the PHEX gene in XLH patients.
Proposed that these insertions should be included in genetic testing for XLH.

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Implication

Examines genetic mutations in XLH patients, suggesting new insertion mechanisms.

Abstract

. We suggest that LINE-1 transposon element insertions be considered in XLH patients lacking other known mutations.

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Cite This Study

Li et al. (2026) studied this question.

synapsesocial.com/papers/69fada7f03f892aec9b1e4c3 https://doi.org/10.1155/humu/3376327

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

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