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Phenotypes of a family with XLH with a novel PHEX mutation

Akiko Yamamoto1, Toshiro Nakamura1, Yasuhisa Ohata2

  • 11Department of Pediatrics, Kumamoto Chuo Hospital, Kumamoto, Japan.

Human Genome Variation
|April 8, 2020
PubMed

Insights

A novel PHEX gene variant causes X-linked hypophosphatemia (XLH), a common rickets form. This genetic mutation led to severe symptoms in a young boy, despite his mother and sister having the same mutation.

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • X-linked hypophosphatemia (XLH) is the most prevalent inherited form of hypophosphatemic rickets.
  • XLH is characterized by impaired phosphate reabsorption in the kidneys, leading to skeletal abnormalities.

Purpose of the Study:

  • To report a novel variant in the phosphate-regulating neutral endopeptidase homolog X-linked (PHEX) gene.
  • To describe the clinical presentation and genetic findings in a pediatric patient with XLH.

Main Methods:

  • Genetic sequencing to identify mutations in the PHEX gene.
  • Clinical examination and assessment of skeletal deformities.
  • Family-based genetic analysis.

Main Results:

  • A novel variant in the PHEX gene was identified in a 4-year-old boy with XLH.
  • The patient presented with short stature, genu valgum, and scaphocephaly.
  • The same mutation was found in his mother and sister, but the patient exhibited a more severe phenotype.

Conclusions:

  • Novel PHEX gene variants can cause XLH with varying severity.
  • Genetic analysis is crucial for diagnosing XLH and understanding disease heterogeneity.
  • Early identification and management of XLH are important for improving patient outcomes.

Keywords:
Parathyroid diseases

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