잠시만 기다려 주세요. 로딩중입니다.

Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets

Annals of Pediatric Endocrinology & Metabolism 2020년 25권 1호 p.63 ~ 67
조하영, Shin Jung-Hyun, 김혜영, 김영미, 이혜림, 배미혜, 박경희, 장자현, 곽민정,
소속 상세정보
조하영 ( Jo Ha-Young ) - Pusan National University School of Medicine Pusan National University Hospital Department of Pediatrics
 ( Shin Jung-Hyun ) - Pusan National University School of Medicine Pusan National University Hospital Department of Pediatrics
김혜영 ( Kim Hye-Young ) - Pusan National University School of Medicine Pusan National University Hospital Department of Pediatrics
김영미 ( Kim Young-Mi ) - Pusan National University School of Medicine Pusan National University Hospital Department of Pediatrics
이혜림 ( Lee Hei-Rim ) - Pusan National University School of Medicine Pusan National University Hospital Department of Pediatrics
배미혜 ( Bae Mi-Hye ) - Pusan National University School of Medicine Pusan National University Hospital Department of Pediatrics
박경희 ( Park Kyung-Hee ) - Pusan National University School of Medicine Pusan National University Hospital Department of Pediatrics
장자현 ( Jang Ja-Hyun ) - Green Cross Genome
곽민정 ( Kwak Min-Jung ) - Pusan National University School of Medicine Pusan National University Hospital Department of Pediatrics

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.

키워드

Hypophosphatemic rickets; Mutation; PHEX; Targeted gene panel sequencing

원문 및 링크아웃 정보

 

등재저널 정보

KCI
KoreaMed
KAMS