Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency

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• 作者：Nurgun Kandemir^a ; ^{nurgun.kandemir@gmail.com} ; ^{nkandemi@hacettepe.edu.tr} ; Didem Yucel Yilmaz^b ; E.Nazli Gonc^a ; Alev Ozon^a ; Ayfer Alikasifoglu^a ; Ali Dursun^b ; R.Koksal Ozgul^b
• 关键词：Congenital adrenal hyperplasia ; CYP11B1 ; 11beta-hydroxylase deficiency ; CYP11B1 novel mutations
• 刊名：The Journal of Steroid Biochemistry and Molecular Biology
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：165
• 期：part_PA
• 页码：57-63
• 全文大小：1618 K
• 卷排序：165

文摘

Seventeen different CYP11B1 gene mutations (6 novel) were detected in 28 patients. The novel mutation p.Gly446Ser causes the late-onset type of the disease. The c.954G > A;p.Thr318Thr mutation was the most common mutation. Of the CYP11B1 gene mutations detected, 75% were found in exons 3, 5 and 7. Half of the mutations identified are nonsense, splice site, deletion or insertion.