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.