A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature
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X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemicrickets and it is caused by loss-of-function mutations in the PHEX gene. Recently, a wide variety of PHEX gene defects in XLH have been revealed; theseinclude missense mutations, nonsense mutations, splice site mutations, insertions,and deletions. Recently, we encountered a 2-year-9-month-old female with sporadichypophosphatemic rickets. She underwent osteotomy, dental abscess wasevident, and there was severe bowing of the legs. A low serum phosphorus level incombination with elevated serum alkaline phosphatase activity and normal serumcalcium is suggestive of hypophosphatemic rickets. PHEX gene analysis revealed asplice acceptor site mutation, c.934-1G＞T (IVS8-1G＞T), at the intron8 and exon9junction. To the best of our knowledge, this mutation is novel and has not beenreported. The results of this study expand and improve our understanding of theclinical and molecular characteristics and the global pool of patients with sporadichypophosphatemic rickets.
Abstract
X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemicrickets and it is caused by loss-of-function mutations in the PHEX gene. Recently, a wide variety of PHEX gene defects in XLH have been revealed; theseinclude missense mutations, nonsense mutations, splice site mutations, insertions,and deletions. Recently, we encountered a 2-year-9-month-old female with sporadichypophosphatemic rickets. She underwent osteotomy, dental abscess wasevident, and there was severe bowing of the legs. A low serum phosphorus level incombination with elevated serum alkaline phosphatase activity and normal serumcalcium is suggestive of hypophosphatemic rickets. PHEX gene analysis revealed asplice acceptor site mutation, c.934-1G＞T (IVS8-1G＞T), at the intron8 and exon9junction. To the best of our knowledge, this mutation is novel and has not beenreported. The results of this study expand and improve our understanding of theclinical and molecular characteristics and the global pool of patients with sporadichypophosphatemic rickets.
참고문헌 (18)
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