| Lee LS |
------>authors3_c= ------>paper_class1=1 ------>Impact_Factor=2.786 ------>paper_class3=2 ------>paper_class2=1 ------>vol=249 ------>confirm_bywho=None ------>insert_bywho=chaurjongh ------>Jurnal_Rank=39.3 ------>authors4_c= ------>comm_author= ------>patent_EDate=None ------>authors5_c= ------>publish_day=25 ------>paper_class2Letter=None ------>page2=20 ------>medlineContent= ------>unit=000 ------>insert_date=20061213 ------>iam=7 ------>update_date=None ------>author=??? ------>change_event=2 ------>ISSN=0303-7207 ------>authors_c= ------>score=500 ------>journal_name=Mol Cell Endocrinol. ------>paper_name=A novel compound heterozygous mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 causes 17alpha-hydroxylase deficiency. ------>confirm_date=None ------>tch_id=093052 ------>pmid=16483711 ------>page1=16 ------>fullAbstract=17alpha-Hydroxylase deficiency is a rare disease caused by mutation of the CYP17 gene, resulting in hypertension, hypokalemia, female sexual infantilism or male pseudohermaphroditism, low blood cortisol and low plasma renin activity. Herein, we report a female Taiwanese with 17alpha-hydroxylase deficiency. The CYP17 genes of this patient and five members of her family were analyzed by PCR-direct sequencing. One allele of the patient contains a 9-bp (c. 1459-1467 GACTCTTTC: D487, S488, F489) deletion, which is prevalent in Southeast Asia. The other allele has a 6-bp (c. 1480-1485 AAGGTG: K494, V495) deletion and an R496L (c. 1487 G>T) missense mutation, which is a novel mutation. Site-directed mutagenesis, in vitro expression and functional analysis in HEK-293T cells showed that this novel mutation [K494_V495 Del; R496L] resulted in complete loss of 17alpha-hydroxylase and 17,20-lyase activity. Thus this novel mutation in the extreme C-terminus abolishes enzyme activity, and when accompanied by a 9-bp deletion at codons 487-489 in the other allele, results in 17alpha-hydroxylase/17,20-lyase deficiency in this patient. ------>tmu_sno=None ------>sno=14367 ------>authors2=Shu WJ ------>authors3=Wu C ------>authors4=Hsieh CH ------>authors5=Chen SM ------>authors6=Hu CJ, Chen WY, Chung BC. ------>authors6_c= ------>authors=Lee LS ------>delete_flag=0 ------>SCI_JNo=None ------>authors2_c= ------>publish_area=0 ------>updateTitle=A novel compound heterozygous mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 causes 17alpha-hydroxylase deficiency. ------>language=2 ------>check_flag=None ------>submit_date=None ------>country=None ------>no=1-2 ------>patent_SDate=None ------>update_bywho=None ------>publish_year=2006 ------>submit_flag=None ------>publish_month=4 |