2006
DOI: 10.1016/j.mce.2006.01.003
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A novel compound heterozygous mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 causes 17α-hydroxylase deficiency

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Cited by 13 publications
(6 citation statements)
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“…In this study, 14 family members from five unrelated families were genotyped; among them, seven family members were found to be heterozygous for the D487_F489 deletion of the CYP17A1 gene, six were found to be heterozygous for Y329fs, and the father of family 3 was found to be a carrier of H373L. Previous in vitro studies have shown that three mutations of the CYP17A1 gene – the D487_F489 deletion, Y329fs, and H373L – completely abolished the enzyme activity of P450c17 20–23 . However, it remains unclear as to whether steroid biosynthetic defects are present in individuals with these three mutations in only one allele of the CYP17A1 gene (i.e.…”
Section: Discussionmentioning
confidence: 87%
See 1 more Smart Citation
“…In this study, 14 family members from five unrelated families were genotyped; among them, seven family members were found to be heterozygous for the D487_F489 deletion of the CYP17A1 gene, six were found to be heterozygous for Y329fs, and the father of family 3 was found to be a carrier of H373L. Previous in vitro studies have shown that three mutations of the CYP17A1 gene – the D487_F489 deletion, Y329fs, and H373L – completely abolished the enzyme activity of P450c17 20–23 . However, it remains unclear as to whether steroid biosynthetic defects are present in individuals with these three mutations in only one allele of the CYP17A1 gene (i.e.…”
Section: Discussionmentioning
confidence: 87%
“…Previous in vitro studies have shown that three mutations of the CYP17A1 gene -the D487_F489 deletion, Y329fs, and H373L -completely abolished the enzyme activity of P450c17. [20][21][22][23] However, it remains unclear as to whether steroid biosynthetic defects are present in individuals with these three mutations in only one allele of the CYP17A1 gene (i.e. carriers), who are assumed to have 50% 17a-hydroxylase and 17,20-lyase activities.…”
Section: Discussionmentioning
confidence: 99%
“…Reports of CYP17 gene mutations are uncommon among patients with CAH in Asian populations studied, including Japanese, Korean, Chinese, and Thai patients [7][8][9][10][11][12][13]. We report here a Han Chinese in Taiwan with 17a-hydroxylase/ 17,20-lyase deficiency carrying a compound heterozygous mutation in the CYP17 gene.…”
Section: Introductionmentioning
confidence: 88%
“…Then, the same mutation was also detected in Chinese patients from different geographic regions i.e. Hong Kong, Sichuan Province, Anhui Province, Taiwan, Shanghai, Shandong Province and Henan Province [8,[10][11][12][13][14]. The subjects of our study were from Zhejiang Province on the southeast coast of China.…”
Section: Discussionmentioning
confidence: 83%
“…Previous studies showed that most of these tumors are adrenocortical adenomas [13]. Adrenal myelolipomas, however, have also been described in few patients with 17OHD [15,16].…”
Section: Discussionmentioning
confidence: 99%