Familial hypophosphatemic rickets caused by a large deletion in PHEX gene
نویسندگان
چکیده
منابع مشابه
A Novel PHEX Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets
Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less common than in XLH rickets. Herein, we describe a 50-year-old female patient with sporadic hypophosphatemic rickets harboring a novel splicing-site...
متن کاملIdentification of Two Novel Mutations in the PHEX Gene in Chinese Patients with Hypophosphatemic Rickets/Osteomalacia
OBJECTIVE X-linked dominant hypophosphatemia (XLH) is the most prevalent form of inherited rickets/osteomalacia in humans. The aim of this study was to identify PHEX gene mutations and describe the clinical features observed in 6 unrelated Chinese families and 3 sporadic patients with hypophosphatemic rickets/osteomalacia. METHODS For this study, 45 individuals from 9 unrelated families of Ch...
متن کاملPHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets
X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene. Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five novel mutations, in nine patients: two nonsense mutations, two missense mutations, one insertion, and three splicing acceptor/donor site mutations. Of these, c.64G>T, c.1699C>T...
متن کاملSeven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets
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 wi...
متن کاملFamilial Hypophosphatemic Rickets: Pathophysiology and Medical Management
Chronic hypophosphatemia is one major cause of rickets and osteomalacia in growing children (see Preface of this volume). There are acquired and congenital forms. In most instances, the acquired forms can be controlled by acting on the underlying cause (insufficient phosphate intake, increased renal loss secondary to a mesenchymal tumor, or an altered renal tubular function). The inherited synd...
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ژورنال
عنوان ژورنال: European Journal of Endocrinology
سال: 2009
ISSN: 0804-4643,1479-683X
DOI: 10.1530/eje-09-0261