A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
Annals of Pediatric Endocrinology & Metabolism
;
: 229-234, 2018.
Article
in English
| WPRIM
| ID: wpr-719030
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Congenital Abnormalities
/
Vitamin D
/
Codon, Nonsense
/
Alleles
/
Familial Hypophosphatemic Rickets
/
Genu Valgum
/
Rickets, Hypophosphatemic
/
Korea
/
Mothers
Limits:
Adult
/
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Annals of Pediatric Endocrinology & Metabolism
Year:
2018
Type:
Article
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