Mutations in the Vitamin D Receptor Gene in Three Kindreds Associated with Hereditary Vitamin D Resistant Rickets
نویسندگان
چکیده
منابع مشابه
Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
Hereditary 1, 25-dihydroxyvitamin D-resistant rickets (HVDRR), a rare recessive disease, is caused by mutation in the VDR gene encoding the vitamin D receptor leading to the resistance to vitamin D. We described a female toddler with initial presentation of leg tenderness and clinical features of HVDRR including severe rickets, hypocalcemia and hypophosphatemia without alopecia. Genetic analysi...
متن کاملNovel Compound Heterozygous Mutations in the Vitamin D Receptor Gene in a Korean Girl with Hereditary Vitamin D Resistant Rickets
Hereditary vitamin D resistant rickets (HVDRR) is a rare genetic disorder caused by a mutation of vitamin D receptor (VDR) gene. A number of cases had been reported in many countries but not in Korea. We examined a three-year old Korean girl who had the typical clinical features of HVDRR including rickets, hypocalcemia, hypophosphatemia, elevated serum calcitriol level and secondary hyperparath...
متن کاملMutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Mutations in the vitamin D receptor (VDR) are associated to the hereditary 1,25-dihydroxivitamin D-resistant rickets. The objectives of this work are: search for mutations in the VDR and analyze their functional consequences in four Brazilian children presented with rickets and alopecia. The coding region of the VDR was amplified by PCR e direct sequenced. We identified three mutations: two pat...
متن کاملFamilial Vitamin D-resistant Rickets
Rickets which is refractory to ordinary doses of vitamin D was first recognized when vitamin preparations of high potency became available (Albright, Butler and Bloomberg, 1937). As an isolated metabolic disorder it is commonly known as 'vitamin D-resistant rickets', also as 'phosphate diabetes' (Fanconi, 1936a, b) and phosphate losing(or renal tubular) rickets, type I (Dent, 1952). Whereas it ...
متن کاملVitamin D receptor gene polymorphisms in Turkish children with vitamin D deficient rickets.
Vitamin D deficient rickets is prevalent in Turkey and a considerable number of children are at risk of growth retardation, impaired bone formation and fracture. In order to check whether vitamin D receptor (VDR) gene polymorphism relates to the vitamin D deficient rickets, we analyzed VDR gene FokI, TaqI and ApaI polymorphisms in 24 Turkish vitamin D deficient rickets patients and 100 healthy ...
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ژورنال
عنوان ژورنال: Journal of Clinical Endocrinology & Metabolism
سال: 1997
ISSN: 0021-972X
DOI: 10.1210/jc.82.9.3156