Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia
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چکیده
منابع مشابه
Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia.
Genomic DNA from 19 Japanese patients with congenital lipoid adrenal hyperplasia (lipoid CAH) representing 16 different families was examined to identify the genetic alterations of steroidogenic acute regulatory protein (StAR). Ten of 19 patients had a 46,XX karyotype and nine had a 46,XY karyotype. Six of the 46,XX patients have experienced spontaneous pubertal changes including breast develop...
متن کاملA Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia
Congenial lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia. It is characterized by impaired synthesis of all the adrenal steroids including mineralocorticoids, glucocorticoids, and sex steroids (1). Affected individuals are phenotypically female and have severe salt wasting. This disease is especially frequent in the Japanese population (1, 2). The cau...
متن کاملCongenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein.
Lipoid CAH was first described in detail as an inherited endocrine disorder by Prader and colleagues (Prader & Gurtner 1955, Prader & Siebenmann 1957, Prader & Anders 1962), although at least four autopsy cases appeared earlier in the pathology literature (Tilp 1913, Brutschy 1920, Zahn 1948, Sandison 1955). Prader’s group described male pseudohermaphroditism, an apparent lack of adrenal steroi...
متن کاملCharacterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia
CONTEXT Steroidogenic acute regulatory protein (StAR) is crucial for transport of cholesterol to mitochondria where biosynthesis of steroids is initiated. Loss of StAR function causes lipoid congenital adrenal hyperplasia (LCAH). OBJECTIVE StAR gene mutations causing partial loss of function manifest atypical and may be mistaken as familial glucocorticoid deficiency. Only a few mutations have...
متن کاملA novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia.
Congenital lipoid adrenal hyperplasia (CLAH) is an autosomal recessive disorder characterized by impaired synthesis of all adrenal and gonadal steroid hormones. Recently, it was reported that mutations in the steroidogenic acute regulatory protein (StAR) gene cause CLAH. In the present study, we have analyzed the StAR gene of a Japanese patient with CLAH. PCR amplification and subsequent nucleo...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1997
ISSN: 1460-2083
DOI: 10.1093/hmg/6.4.571