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Published on: August 15, 2019
Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with
Ha Young Jo1, Jung Hyun Shin1, Hye Young Kim1
1Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea.
Insights
Familial hypophosphatemic rickets (FHR) is a genetic disorder affecting phosphate regulation. A novel PHEX gene variant was identified in a Korean family, contributing to FHR development and symptoms like bowed legs.
Area of Science:
- Genetics and Molecular Biology
- Pediatric Endocrinology
- Rare Disease Research
Background:
- Familial hypophosphatemic rickets (FHR) comprises four inherited forms, each with distinct molecular etiologies.
- Renal phosphate transport defects cause phosphate wasting and hypophosphatemia in FHR patients.
- Limited molecular studies on FHR exist for Korean populations, with 18 PHEX gene mutations previously reported.
Observation:
- A 24-month-old Korean boy presented with characteristic FHR symptoms: bowed legs and short stature.
- Biochemical analysis revealed hypophosphatemia and reduced tubular phosphate reabsorption.
- Affected family members exhibited short stature and genu varum (bowed legs).
Findings:
- Targeted gene panel sequencing identified a novel hemizygous missense variant, c.1949T>C (p.Leu650Pro), in the PHEX gene.
- This PHEX gene variant was also present in the affected boy's mother, who displayed similar clinical features.
- The findings implicate this novel variant as a cause of FHR in this Korean family.
Implications:
- This study expands the known spectrum of PHEX gene mutations associated with FHR.
- It highlights the importance of genetic analysis for diagnosing FHR, particularly in underrepresented populations.
- Understanding novel variants aids in comprehending FHR pathogenesis and potential therapeutic strategies.
Abstract:
Familial hypophosphatemic rickets (FHR) is a disorder characterized by phosphate wasting and hypophosphatemia due to defects in renal phosphate transport regulation. There are 4 known inherited forms of FHR that differ in their molecular causes. Very few studies have been conducted that focused on the molecular analysis of FHR in Koreans. Eighteen mutations of the PHEX gene have been identified to this date in Korea. Herein, we report the clinical case of a 24-month-old boy presenting with bowed legs and short stature. The biochemical profile showed hypophosphatemia with decreased tubular reabsorption of phosphate. Several family members were identified with short stature and genu varum. Therefore, he was diagnosed with FHR. To identify the molecular causes of FHR, we performed targeted gene panel sequencing and found a novel hemizygous missense variant, c.1949T>C (p.Leu650Pro), in the PHEX gene. This variant was also detected in the boy's mother who exhibited genu varum and short stature.
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