Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets
10.6065/apem.2020.25.1.63
- Author:
Ha Young JO
1
;
Jung Hyun SHIN
;
Hye Young KIM
;
Young Mi KIM
;
Heirim LEE
;
Mi Hye BAE
;
Kyung Hee PARK
;
Ja-Hyun JANG
;
Min Jung KWAK
Author Information
1. Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea
- Publication Type:Case Report
- From:Annals of Pediatric Endocrinology & Metabolism
2020;25(1):63-67
- CountryRepublic of Korea
-
Abstract:
Familial hypophosphatemic rickets (FHR) is a disorder characterized by phosphate wasting and hypophosphatemia due to defects in renal phosphate transport regulation. There are 4 known inherited forms of FHR that differ in their molecular causes. Very few studies have been conducted that focused on the molecular analysis of FHR in Koreans. Eighteen mutations of the PHEX gene have been identified to this date in Korea. Herein, we report the clinical case of a 24-month-old boy presenting with bowed legs and short stature. The biochemical profile showed hypophosphatemia with decreased tubular reabsorption of phosphate. Several family members were identified with short stature and genu varum. Therefore, he was diagnosed with FHR. To identify the molecular causes of FHR, we performed targeted gene panel sequencing and found a novel hemizygous missense variant, c.1949T>C (p.Leu650Pro), in the PHEX gene. This variant was also detected in the boy’s mother who exhibited genu varum and short stature.
