Annals of Pediatric Endocrinology and Metabolism

Korean Society of Pediatric Endocrinology (대한소아내분비학회)
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A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets

  • Yang, Misun (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Jinsup (Department of Pediatrics, Hanyang University Guri Hopistal, Hanyang University College of Medicine) ;
  • Yang, Aram (Department of Pediatrics, Inha University School of Medicine) ;
  • Jang, Jahyun (Green Cross Genome) ;
  • Jeon, Tae Yeon (Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Cho, Sung Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Jin, Dong-Kyu (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • Received : 2018.02.05
  • Accepted : 2018.06.17
  • Published : 2018.12.30
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Abstract

X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate accompanied by bilateral genu valgum and short stature. He had received medical treatment with vitamin D (alfacalcidol) and phosphate from the age of 3 to 20 years. He underwent surgery due to valgus deformity at the age of 14 and 15. Targeted gene panel sequencing for Mendelian genes identified a nonsense mutation in PHEX (c.589C>T; p.Gln197Ter) and a mosaic pattern where only 38% of sequence reads showed the variant allele. This mutation was not found in his mother, who had a normal phenotype. This is a case of a sporadic nonsense mutation in PHEX and up to date, this is the first case of a mosaic mutation in PHEX in Korea.

Keywords

References

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