ArticleInternational journal of molecular medicine2016
Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.
Article in International journal of molecular medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Current Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience.The Journal of clinical endocrinology and metabolism · 2025Article
- Alternative Splicing: A Critical Regulator in Human Bone Biology and Tumor Progression.Research (Washington, D.C.) · 2025Review
- De Novo Large Deletions in theDiagnostics (Basel, Switzerland) · 2023Article
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- Article
- Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets.Italian journal of pediatrics · 2022Article
- Identification of six novel variants from nine Chinese families with hypophosphatemic rickets.BMC medical genomics · 2022Article
- Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription.Cell death & disease · 2022Article
- Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia.Frontiers in endocrinology · 2022Article
- A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets.Annals of pediatric endocrinology & metabolism · 2021Article
- Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries.Archives of osteoporosis · 2021Article
- Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia.Frontiers in cell and developmental biology · 2021Article
- Novel variants and uncommon cases among southern Chinese children with X-linked hypophosphatemia.Journal of endocrinological investigation · 2020Article
- PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country.The application of clinical genetics · 2020Article
- Genetics of Refractory Rickets: Identification of NovelJournal of pediatric genetics · 2018Review
- Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures.Journal of dental research · 2018Article
- X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female.Journal of bone metabolism · 2017Article
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6 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Inactivating mutations in phosphate-regulating gene with homologies to endopeptidase on the X chromosome (PHEX) have been identified as a cause of X-linked hypophosphatemic rickets (XLH; OMIM 307800). In the present study, we enrolled 43 patients from 18 unrelated families clinically diagnosed with hypophosphatemic rickets and 250 healthy controls. For each available individual, all 22 exons with their exon-intron boundaries of the PHEX gene were directly sequenced. The levels of serum fibroblast growth factor 23 (FGF23) were measured as well. Sequencing analysis detected 17 different PHEX gene mutations, and 7 of these were identified as novel: 3 missense mutations, including c.304G>A (p.Gly102Arg) in exon 3, c.229T>C (p.Cys77Arg) in exon 3 and c.824T>C (p.Leu275Pro) in exon 7; 2 deletion mutations, including c.528delT (p.Glu177LysfsX44) in exon 5 and c.1234delA (p.Ser412ValfsX12) in exon 11; and 2 alternative splicing mutations, including c.436_436+1delAG in intron 4 at splicing donor sites and c.1483-1G>C in intron 13 at splicing acceptor sites. Moreover, 6 mutations were proven to be de novo in 6 sporadic cases and the probands were all females. No mutations were found in the 250 healthy controls. The serum levels of FGF23 varied widely among the patients with XLH, and no significant difference was found when compared with those of the healthy controls. On the whole, the findings of this study provide new insight into the spectrum of PHEX mutations and provide potential evidence of a critical domain in PHEX protein. In addition, the finding of an overlap of the serum FGF23 levels between the patients with XLH and the healthy controls indicates its limited diagnostic value in XLH.
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