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A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets
المؤلفون المشاركون
Kawahara, Tetsuya
Watanabe, Hiromi
Omae, Risa
Yamamoto, Toshiyuki
Inazu, Tetsuya
المصدر
العدد
المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-03-15
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization.
Inactivating mutations in the gene encoding phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) have been found to be associated with XLH.
Here, we report a 16-year-old female patient affected by hypophosphatemic rickets.
We evaluated her serum fibroblast growth factor 23 (FGF23) levels and conducted sequence analysis of the disease-associated genes of FGF23-related hypophosphatemic rickets: PHEX, FGF23, dentin matrix protein 1, and ectonucleotide pyrophosphatase/phosphodiesterase 1.
She was diagnosed with XLH based on her clinical features and family history.
Additionally, we observed elevated FGF23 levels and a novel PHEX exon 9 mutation (c.947G>T; p.Gly316Val) inherited from her father.
Although bioinformatics showed that the mutation was neutral, Gly316 is perfectly conserved among humans, mice, and rats, and there were no mutations in other FGF23-related rickets genes, suggesting that in silico analysis is limited in determining mutation pathogenicity.
In summary, we present a female patient and her father with XLH harboring a novel PHEX mutation that appears to be causative of disease.
Measurement of FGF23 for hypophosphatemic patients is therefore useful for the diagnosis of FGF23-dependent hypophosphatemia.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Kawahara, Tetsuya& Watanabe, Hiromi& Omae, Risa& Yamamoto, Toshiyuki& Inazu, Tetsuya. 2015. A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets. Case Reports in Genetics،Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1058506
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Kawahara, Tetsuya…[et al.]. A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets. Case Reports in Genetics No. 2015 (2015), pp.1-5.
https://search.emarefa.net/detail/BIM-1058506
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Kawahara, Tetsuya& Watanabe, Hiromi& Omae, Risa& Yamamoto, Toshiyuki& Inazu, Tetsuya. A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets. Case Reports in Genetics. 2015. Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1058506
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1058506
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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