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Başlık: Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets
Yazarlar: Güven, Ayla
Al-Rijjal, Roua A.
BinEssa, Huda A.
Kor, Yılmaz
Zou, Minjing
Kaya, Namık
Alenezi, Anwar F.
Hancılı, Suna
Baitei, Essa
Kattan, Walaa E.
Meyer, Brian F.
Shi, Yufei
Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinoloji Anabilim Dalı/Çocuk Sağlığı ve Hastalıkları Bilim Dalı.
Doğan, Durmuş
Tarım, Ömer
24467663400
6701427186
Anahtar kelimeler: Endocrinology & metabolism
CLCN5
FGF23
Hypophosphataemia
PHEX
Rickets
Molecular-weight proteinuria
Dent disease
Genephos
Pphate
Dmp1
Sslc34a3
Nephrocalcinosis
Hhypercalciuria
Children
Yayın Tarihi: Tem-2017
Yayıncı: Wiley
Atıf: Güven, A. vd. (2017). ''Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets''. Clinical Endocrinology, 87(1), 103-112.
Özet: ContextHypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3. ObjectiveTo investigate underlying genetic defects in patients with hypophosphataemic rickets. MethodsWe analysed genomic DNA from nine unrelated families for mutations in the entire coding region of PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3 by PCR sequencing and copy number analysis. ResultsA total of 14 patients were studied. PHEX mutations were identified in 12 patients from seven families. Five of them were novel mutations present in eight patients: c.154G>T (p.E52*), c.401_402insGCCAAA (p.Q134_K135insPK), c.1600C>T (p.P534S), g.22016715_22056805del (40-kb deletion including promoter and exons 1-3) and c.2242_2243delCT (p.L748fs*48). Four patients had previously reported mutations: c.1768+1G>A and c.1807G>A (p.W602*). Novel CLCN5 (c.1205G>A, p.W402*) and FGF23 (c.526C>G, p.R176G) mutations were found in two patients from the remaining two families. Many of the mutations were de novo: c.154G>T and c.2242_2243delCT in PHEX and c.526C>G in FGF23. Furthermore, we characterized the breakpoint of the novel PHEX g.22016715_22056805del and the c.2242_2243delCT, which is 6bp from the stop codon, resulting in a frameshift and extension of the reading frame by 42 amino acids. ConclusionsNovel and de novo mutations are frequent and PHEX mutations are still the most common genetic defects in the Turkish population. Gene copy number analysis should be considered in patients with negative results by conventional PCR-based sequencing analysis. The current study further expands the mutation spectrum underlying HR.
URI: https://doi.org/10.1111/cen.13347
https://onlinelibrary.wiley.com/doi/10.1111/cen.13347
http://hdl.handle.net/11452/29306
ISSN: 0300-0664
Koleksiyonlarda Görünür:Scopus
Web of Science

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