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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제23권 제4호
- 발행연도
- 2018.1
- 수록면
- 229 - 234 (6page)
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초록· 키워드
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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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참고문헌 (19)
참고문헌 신청
Kim J / 2009 / A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets / Ann Clin Lab Sci 39:182~187
Francis F / 1997 / Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets / Genome Res 7:573~585
Krus e K / 2001 / Loss of renal phosphate wasting in a child with autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation / Horm Res 55:305~308
Lorenz-Depiereux B / 2006 / Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodiumphosphate cotransporter gene SLC34A3 / Am J Hum Genet 78:193~201
Feng JQ / 2006 / Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism / Nat Genet 38:1310~1315
Francis F / 1997 / Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets / Genome Res 7:573~585
Krus e K / 2001 / Loss of renal phosphate wasting in a child with autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation / Horm Res 55:305~308
Lorenz-Depiereux B / 2006 / Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodiumphosphate cotransporter gene SLC34A3 / Am J Hum Genet 78:193~201
Feng JQ / 2006 / Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism / Nat Genet 38:1310~1315
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