CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia
CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia
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DOI：
10.3109/13816810.2013.841961
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发表时间：
2015-06-01
影响因子：
1.2
通讯作者：
Edward, Deepak P.
中科院分区：
文献类型：
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作者：
Abu-Amero, Khaled K.;Morales, Jose;Edward, Deepak P.
描述14例沙特无血缘关系的青少年开角型青光眼（JOAG）的基因型和表型。进行详细的临床检查，我们测序细胞色素P450，家族1，亚家族B（CYP 1B 1），Myocilin（MYOC）和潜伏转化生长因子β结合蛋白2（LTBP 2）基因。12例（85.7%）患者有明显的散发遗传，2例（14.3%）有青光眼家族史。总体而言，12例患者（85.7%）存在CYP 1B 1突变。9例患者的CYP 1B 1突变为纯合状态。其中8例有纯合p.G61E突变，1例有沉默（无氨基酸变化）序列变化。2例患者的p.G61E突变为复合杂合状态，伴有另一种CYP 1B 1突变（p.L432V）。2例患者p.G61E处于杂合状态，无其他突变，而1例患者无突变。所有患者均未发生MYOC或LTBP 2基因突变。与CYP 1B 1突变相关的JOAG在沙特人群中发生率很高。未发现特异的基因型-表型关系。
To describe the genotype and phenotype in 14 unrelated Saudis with juvenile open angle glaucoma (JOAG). Detailed clinical examination was carried out and we sequenced cytochrome P450, family 1, subfamily B (CYP1B1), Myocilin (MYOC) and latent-transforming growth factor beta-binding protein 2 (LTBP2) genes. Twelve (85.7%) patients had apparent sporadic inheritance and 2 (14.3%) presented with a family history of glaucoma. Overall, 12 patients (85.7%) had CYP1B1 mutation. Nine patients had CYP1B1 mutations in a homozygous status. Eight of these had homozygous p.G61E mutation and one had a silent (no amino acid change) sequence change. Two patients had p.G61E mutation in a compound heterozygous status with another CYP1B1 mutation (p.L432V). Two patients had p.G61E in a heterozygous status with no other mutation, while one patient had no mutation(s). None of the patients had any mutation(s) in the MYOC or LTBP2 genes. JOAG associated with CYP1B1 mutations occurs at a high rate in the Saudi population. A specific genotype-phenotype relationship was not demonstrated.