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Updated: Dec 9, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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X-linked hypophosphatemic rickets: a new mutation.

Patrícia Maio1, Lia Mano2, Sara Rocha3

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|September 8, 2020
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Summary
This summary is machine-generated.

A new PHEX gene mutation, c.767_768del, caused phosphopenic rickets in a child. Identifying novel mutations aids in understanding genotype-phenotype correlations for better patient outcomes.

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Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Phosphopenic rickets, a condition characterized by low phosphate levels leading to bone deformities, is often caused by mutations in the phosphate regulating endopeptidase homolog X-linked (PHEX) gene.
  • Over 500 PHEX gene mutations have been identified, contributing to various forms of hypophosphatemic rickets.

Observation:

  • A 4-year-old girl presented with failure to thrive and bowed legs, despite no significant family history of genetic disorders.
  • Laboratory results revealed hypophosphatemia, elevated alkaline phosphatase, normal calcium and vitamin D levels, and mildly elevated parathyroid hormone.
  • Radiological imaging showed deformities in the radius and femur, consistent with rickets.

Findings:

  • Genetic analysis identified a novel heterozygous likely pathogenic variant in the PHEX gene: c.767_768del (p.Thr256Serfs*7).
  • This specific PHEX gene variant had not been previously reported in scientific literature or genetic databases.

Implications:

  • The discovery of new PHEX gene mutations is crucial for improving the diagnosis and management of phosphopenic rickets.
  • Establishing genotype-phenotype correlations through genetic analysis can lead to more personalized and effective patient care strategies.