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Novel PHEX gene mutation associated with X linked hypophosphatemic rickets
1Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital, Singapore, Singapore. manju.chandran @ sgh.com.sg
Nephron. Physiology
|July 29, 2010
Summary
This study identifies a new PHEX gene mutation causing X-linked hypophosphatemia (XLH). Vitamin D deficiency should not rule out familial hypophosphatemic rickets in affected families.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- X-linked hypophosphatemia (XLH) is a genetic disorder causing renal phosphate wasting, leading to hypophosphatemia, short stature, and rickets.
- XLH is characterized by impaired phosphate reabsorption in the kidneys.
Observation:
- A novel nonsense mutation (Glu(96)X, c.286G>T) in exon 3 of the PHEX gene was identified in a mother and daughter of Indian ancestry presenting with XLH.
- The mother also exhibited concurrent vitamin D insufficiency.
Findings:
- This report details a previously undescribed nonsense mutation in the PHEX gene as the cause of XLH in the affected family.
- The genetic findings confirm a familial form of hypophosphatemic rickets.
Implications:
- The discovery of this novel PHEX mutation expands the known spectrum of genetic causes for XLH.
- Clinicians should consider familial hypophosphatemic rickets even in the presence of vitamin D insufficiency, particularly when multiple family members are affected.
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