A novel MKRN3 missense mutation causing familial precocious puberty
نویسندگان
چکیده
منابع مشابه
Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.
CONTEXT AND OBJECTIVE Idiopathic central precocious puberty (iCPP) is defined as early activation of the hypothalamic-pituitary-gonadal axis in the absence of identifiable central lesions. Mutations of the makorin RING finger 3 (MKRN3) gene are associated with iCPP. We aimed to assess the frequency of MKRN3 mutations in iCPP and to compare the phenotypes of patients with and without MKRN3 mutat...
متن کاملThe characteristics of familial precocious puberty
Aims Precocious puberty is defined as the precocious onset of pubertal manifestations. The cause of precocious puberty is unknown despite numerous attempts to find it. Despite most precocious puberty is sporadic disease, some patients have familial tendency. Recently specific gene mutation has proven to cause precocious puberty and the existence of familial precocious puberty is emerging. This ...
متن کاملA case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 gene
BACKGROUND Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene, located on chromosome 15 in the Prader-Willi syndrome (PWS)-associated region (15q11-q13), has been found mutated in 5 families with familial precocious puberty. The MKRN3 is a maternal imprinted gene and the phenotype is expresse...
متن کاملA novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome.
OBJECTIVE Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare hereditary disorder characterized by hyperphosphataemia, inappropriately normal or elevated 1,25-dihydroxyvitamin D(3) and localized painful cortical hyperostosis. HHS was shown to be caused by inactivating mutations in GALNT3, encoding UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-t...
متن کاملCentral precocious puberty caused by mutations in the imprinted gene MKRN3.
BACKGROUND The onset of puberty is first detected as an increase in pulsatile secretion of gonadotropin-releasing hormone (GnRH). Early activation of the hypothalamic-pituitary-gonadal axis results in central precocious puberty. The timing of pubertal development is driven in part by genetic factors, but only a few, rare molecular defects associated with central precocious puberty have been ide...
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ژورنال
عنوان ژورنال: Human Reproduction
سال: 2014
ISSN: 0268-1161,1460-2350
DOI: 10.1093/humrep/deu256