A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets.
10.6065/apem.2018.23.4.229
- Author:
Misun YANG
1
;
Jinsup KIM
;
Aram YANG
;
Jahyun JANG
;
Tae Yeon JEON
;
Sung Yoon CHO
;
Dong Kyu JIN
Author Information
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. nadri1217@naver.com, jindk@skku.edu.
- Publication Type:Case Report
- Keywords:
PHEX;
Hypophosphatemic rickets;
Mosaic mutation;
Nonsense mutation
- MeSH:
Adult;
Alleles;
Codon, Nonsense;
Congenital Abnormalities;
Familial Hypophosphatemic Rickets;
Genu Valgum;
Humans;
Korea;
Mothers;
Phenotype;
Rickets, Hypophosphatemic*;
Vitamin D
- From:Annals of Pediatric Endocrinology & Metabolism
2018;23(4):229-234
- CountryRepublic of Korea
- Language:English
-
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.
