A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
Annals of Pediatric Endocrinology & Metabolism
; : 229-234, 2018.
Article
em En
| WPRIM
| ID: wpr-719030
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Fenótipo
/
Anormalidades Congênitas
/
Vitamina D
/
Códon sem Sentido
/
Alelos
/
Raquitismo Hipofosfatêmico Familiar
/
Geno Valgo
/
Raquitismo Hipofosfatêmico
/
Coreia (Geográfico)
/
Mães
Limite:
Adult
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Annals of Pediatric Endocrinology & Metabolism
Ano de publicação:
2018
Tipo de documento:
Article