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KMID : 1036920180230040229
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Annals of Pediatric Endocrinology & Metabolism
2018 Volume.23 No. 4 p.229 ~ p.234
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A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
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Yang Mi-Sun
Kim Jin-Sup
Yang A-Ram
Jang Ja-Hyun
Jeon Tae-Yeon
Cho Sung-Yoon
Jin Dong-Kyu
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Abstract
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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.
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KEYWORD
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PHEX, Hypophosphatemic rickets, Mosaic mutation, Nonsense mutation
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