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

Puntos clave

• 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.