Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets
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 t...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Korean Society of Pediatric Endocrinology
2020-03-01
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| Series: | Annals of Pediatric Endocrinology & Metabolism |
| Subjects: | |
| Online Access: | http://e-apem.org/upload/pdf/apem-2020-25-1-63.pdf |
| _version_ | 1828405562192166912 |
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| author | Ha Young Jo Jung Hyun Shin Hye Young Kim Young Mi Kim Heirim Lee Mi Hye Bae Kyung Hee Park Ja-Hyun Jang Min Jung Kwak |
| author_facet | Ha Young Jo Jung Hyun Shin Hye Young Kim Young Mi Kim Heirim Lee Mi Hye Bae Kyung Hee Park Ja-Hyun Jang Min Jung Kwak |
| author_sort | Ha Young Jo |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-10T10:55:33Z |
| format | Article |
| id | doaj.art-fa56ace688394bec988c4e0c5afb259a |
| institution | Directory Open Access Journal |
| issn | 2287-1012 2287-1292 |
| language | English |
| last_indexed | 2024-12-10T10:55:33Z |
| publishDate | 2020-03-01 |
| publisher | Korean Society of Pediatric Endocrinology |
| record_format | Article |
| series | Annals of Pediatric Endocrinology & Metabolism |
| spelling | doaj.art-fa56ace688394bec988c4e0c5afb259a2022-12-22T01:51:54ZengKorean Society of Pediatric EndocrinologyAnnals of Pediatric Endocrinology & Metabolism2287-10122287-12922020-03-01251636710.6065/apem.2020.25.1.63802Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic ricketsHa Young Jo0Jung Hyun Shin1Hye Young Kim2Young Mi Kim3Heirim Lee4Mi Hye Bae5Kyung Hee Park6Ja-Hyun Jang7Min Jung Kwak8 Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea Green Cross Genome, Yongin, Korea Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine, Busan, KoreaFamilial 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.http://e-apem.org/upload/pdf/apem-2020-25-1-63.pdfhypophosphatemic ricketsmutationtargeted gene panel sequencing |
| spellingShingle | Ha Young Jo Jung Hyun Shin Hye Young Kim Young Mi Kim Heirim Lee Mi Hye Bae Kyung Hee Park Ja-Hyun Jang Min Jung Kwak Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets Annals of Pediatric Endocrinology & Metabolism hypophosphatemic rickets mutation targeted gene panel sequencing |
| title | Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets |
| title_full | Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets |
| title_fullStr | Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets |
| title_full_unstemmed | Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets |
| title_short | Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets |
| title_sort | identification of a novel variant in the gene using targeted gene panel sequencing in a 24 month old boy with hypophosphatemic rickets |
| topic | hypophosphatemic rickets mutation targeted gene panel sequencing |
| url | http://e-apem.org/upload/pdf/apem-2020-25-1-63.pdf |
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