کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2781051 1153312 2008 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شناسی تکاملی
پیش نمایش صفحه اول مقاله
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets
چکیده انگلیسی

X-linked hypophosphatemic rickets (XLH) is a dominantly inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. XLH is caused by inactivating mutations in PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). In this study, we sequenced the PHEX gene in subjects from 26 kindreds who were clinically diagnosed with XLH. Sequencing revealed 18 different mutations, of which thirteen have not been reported previously. In addition to deletions, splice site mutations, and missense and nonsense mutations, a rare point mutation in the 3′-untranslated region (3′-UTR) was identified as a novel cause of XLH. In summary, we identified a wide spectrum of mutations in the PHEX gene. Our data, in accord with those of others, indicate that there is no single predominant PHEX mutation responsible for XLH.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Bone - Volume 43, Issue 4, October 2008, Pages 663–666
نویسندگان
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