Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia
ObjectiveThe aim of this study was to fully describe the clinical and genetic characteristics, including clinical manifestations, intact fibroblast growth factor 23 (iFGF23) levels, and presence of PHEX gene mutations, of 22 and 7 patients with familial and sporadic X-linked dominant hypophosphatemi...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-08-01
|
| Series: | Frontiers in Endocrinology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2022.956646/full |
| _version_ | 1818483730660982784 |
|---|---|
| author | Tian Xu Xiaohui Tao Zhenlin Zhang Hua Yue |
| author_facet | Tian Xu Xiaohui Tao Zhenlin Zhang Hua Yue |
| author_sort | Tian Xu |
| collection | DOAJ |
| description | ObjectiveThe aim of this study was to fully describe the clinical and genetic characteristics, including clinical manifestations, intact fibroblast growth factor 23 (iFGF23) levels, and presence of PHEX gene mutations, of 22 and 7 patients with familial and sporadic X-linked dominant hypophosphatemia (XLH), respectively.MethodsDemographic data, clinical features, biochemical indicators, and imaging data of 29 patients were collected. All 22 exons and exon–intron boundaries of the PHEX gene were amplified by polymerase chain reaction (PCR) and directly sequenced. The serum level of iFGF23 was measured in 15 of the patients.ResultsTwenty-nine patients (male/female: 13:16, juvenile/adult: 15:14) with XLH were included. The main symptoms were bowed lower extremities (89.7%), abnormal gait (89.7%), and short stature/growth retardation (78.6%). Hypophosphatemia with a high alkaline phosphatase level was the main biochemical feature and the median value of serum iFGF23 was 55.7 pg/ml (reference range: 16.1–42.2 pg/ml). Eight novel mutations in the PHEX gene were identified by Sanger sequencing, including two missense mutations (p. Gln682Leu and p. Phe312Ser), two deletions (c.350_356del and c.755_761del), one insertion (c.1985_1986insTGAC), and three splice mutations (c.1700+5G>C, c.1966-1G>T, and c.350-14_350-1del). Additionally, the recurrence rate after the first orthopedic surgery was 77.8% (7/9), and five of them had their first surgery before puberty.ConclusionOur study expanded the clinical phenotypes and gene mutation spectrum of XLH and provided a reference for the optimal timing of orthopedic surgeries. |
| first_indexed | 2024-12-10T15:45:48Z |
| format | Article |
| id | doaj.art-75a2ed7300914b2ea7375539d3df0708 |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-12-10T15:45:48Z |
| publishDate | 2022-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-75a2ed7300914b2ea7375539d3df07082022-12-22T01:42:57ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922022-08-011310.3389/fendo.2022.956646956646Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemiaTian XuXiaohui TaoZhenlin ZhangHua YueObjectiveThe aim of this study was to fully describe the clinical and genetic characteristics, including clinical manifestations, intact fibroblast growth factor 23 (iFGF23) levels, and presence of PHEX gene mutations, of 22 and 7 patients with familial and sporadic X-linked dominant hypophosphatemia (XLH), respectively.MethodsDemographic data, clinical features, biochemical indicators, and imaging data of 29 patients were collected. All 22 exons and exon–intron boundaries of the PHEX gene were amplified by polymerase chain reaction (PCR) and directly sequenced. The serum level of iFGF23 was measured in 15 of the patients.ResultsTwenty-nine patients (male/female: 13:16, juvenile/adult: 15:14) with XLH were included. The main symptoms were bowed lower extremities (89.7%), abnormal gait (89.7%), and short stature/growth retardation (78.6%). Hypophosphatemia with a high alkaline phosphatase level was the main biochemical feature and the median value of serum iFGF23 was 55.7 pg/ml (reference range: 16.1–42.2 pg/ml). Eight novel mutations in the PHEX gene were identified by Sanger sequencing, including two missense mutations (p. Gln682Leu and p. Phe312Ser), two deletions (c.350_356del and c.755_761del), one insertion (c.1985_1986insTGAC), and three splice mutations (c.1700+5G>C, c.1966-1G>T, and c.350-14_350-1del). Additionally, the recurrence rate after the first orthopedic surgery was 77.8% (7/9), and five of them had their first surgery before puberty.ConclusionOur study expanded the clinical phenotypes and gene mutation spectrum of XLH and provided a reference for the optimal timing of orthopedic surgeries.https://www.frontiersin.org/articles/10.3389/fendo.2022.956646/fullX-linked dominant hypophosphatemiaPHEXfibroblast growth factor 23clinical featuresgene mutation |
| spellingShingle | Tian Xu Xiaohui Tao Zhenlin Zhang Hua Yue Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia Frontiers in Endocrinology X-linked dominant hypophosphatemia PHEX fibroblast growth factor 23 clinical features gene mutation |
| title | Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia |
| title_full | Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia |
| title_fullStr | Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia |
| title_full_unstemmed | Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia |
| title_short | Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia |
| title_sort | clinical and genetic characteristics of 29 chinese patients with x linked hypophosphatemia |
| topic | X-linked dominant hypophosphatemia PHEX fibroblast growth factor 23 clinical features gene mutation |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2022.956646/full |
| work_keys_str_mv | AT tianxu clinicalandgeneticcharacteristicsof29chinesepatientswithxlinkedhypophosphatemia AT xiaohuitao clinicalandgeneticcharacteristicsof29chinesepatientswithxlinkedhypophosphatemia AT zhenlinzhang clinicalandgeneticcharacteristicsof29chinesepatientswithxlinkedhypophosphatemia AT huayue clinicalandgeneticcharacteristicsof29chinesepatientswithxlinkedhypophosphatemia |