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

Dongmei Li1,2,3, Wan Peng4, Lu Kang4

  • 1Department of Pediatric Nephrology, West China Second University Hospital, Sichuan University, Chengdu, China, scu.edu.cn.

Human Mutation
|May 4, 2026
PubMed

Insights

X-linked hypophosphatemia (XLH) in a child was linked to a novel PHEX gene mutation. This genetic finding involved a LINE-1 insertion, offering new insights for diagnosing XLH.

Area of Science:

  • Genetics
  • Pediatric Endocrinology
  • Molecular Biology

Background:

  • X-linked hypophosphatemia (XLH) is the most common genetic cause of rickets.
  • XLH typically presents in children with hypophosphatemia, rickets, and growth impairment, often linked to PHEX gene mutations.

Purpose of the Study:

  • To report a novel genetic mutation causing XLH in a pediatric patient.
  • To investigate the molecular basis of XLH in a case with unusual genetic findings.

Main Methods:

  • Clinical assessment of a 2-year-old boy with XLH symptoms.
  • Sanger sequencing to identify mutations in the PHEX gene.
  • Analysis of genetic variants, including insertions, within the PHEX gene.

Main Results:

  • A novel mutation in the PHEX gene was identified, characterized by a 62-bp poly-T and a 421-bp LINE-1 insertion in exon 22.
  • This specific insertion was associated with the patient's hypophosphatemia and clinical presentation of XLH.
  • This represents the first documented case of XLH associated with a partial LINE-1 insertion in the PHEX gene.

Conclusions:

  • LINE-1 transposon insertions in the PHEX gene can cause X-linked hypophosphatemia.
  • Genetic screening for LINE-1 insertions should be considered in XLH patients with unexplained hypophosphatemia.

Keywords:
X-linked hypophosphatemia (XLH)fibroblast growth factor 23 (FGF23)insertionlong interspersed element-1 (LINE-1)phosphate-regulating endopeptidase homolog X-linked gene (PHEX)

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