Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract.
Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract.
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在患有典型先天性无虹膜和白内障的中国患者中发现了两个配对的 Box 6 突变
DOI：
10.3892/mmr.2018.9469
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发表时间：
2018-11
影响因子：
3.4
通讯作者：
Lu L
中科院分区：
文献类型：
--
作者：
Lin Y;Gao H;Zhu Y;Chen C;Li T;Liu B;Lyu C;Huang Y;Li H;Wu Q;Jin C;Liang X;Huang X;Lu L
先天性无虹膜是一种罕见的遗传性疾病，其特征是不同程度的虹膜发育不全或缺失。它经常与角膜病、白内障、青少年发病的青光眼以及中心凹和视神经发育不全有关。 11p13 号染色体上的配对盒 6 (PAX6) 基因突变已被证明会导致无虹膜。本研究的目的是调查两名来自中国南方的散发性典型先天性无虹膜和白内障患者的 PAX6 遗传变异。进行了完整的眼科和体格检查，包括最佳矫正视力、眼压、裂隙灯检查、眼底检查、光学相干断层扫描、超声生物显微镜检查和 Pentacam 扫描。从两名患者、其未受影响的父母以及来自同一人群的 200 名无关对照受试者收集的外周血白细胞中提取了基因组 DNA。通过聚合酶链式反应扩增 PAX6 基因的外显子 4-13 并直接测序。患者1患有无虹膜症并伴有先天性白内障和眼球震颤。在该患者中发现了外显子 6 中的新型杂合 PAX6 移码突变 c.277delG (p.Glu93SerfsX31)。患者 2 患有无虹膜、先天性白内障、晶状体半脱位和青光眼。在该患者中发现了外显子 9 中反复出现的无义突变 c.718C>T (p.Arg240X)。目前的结果扩大了 PAX6 的突变谱，对于受影响家庭的遗传咨询将很有价值。此外，这些突变的鉴定重申了 PAX6 在眼部发育中的重要性，并揭示了先天性无虹膜的发病机制。
Congenital aniridia is a rare genetic disorder characterized by a variable degree of hypoplasia or absence of iris. It is frequently associated with keratopathy, cataract, juvenile-onset glaucoma and foveal and optic nerve hypoplasia. Mutations in the Paired Box 6 (PAX6) gene on chromosome 11p13 have been demonstrated to cause aniridia. The aim of the present study was to investigate the genetic variations of PAX6 in two sporadic patients from southern China with classic congenital aniridia and cataract. Complete ophthalmic and physical examinations were performed, including best-corrected visual acuity, intraocular pressure, slit-lamp examination, fundus examination, optical coherence tomography, ultrasound biomicroscopy, and Pentacam scanning. Genomic DNA was extracted from leukocytes of peripheral blood collected from the two patients, their unaffected parents and 200 unrelated control subjects from the same population. Exons 4–13 of the PAX6 gene were amplified by polymerase chain reaction and sequenced directly. Patient 1 was affected with aniridia accompanied by congenital cataract and nystagmus. A novel heterozygous PAX6 frameshift mutation c.277delG (p.Glu93SerfsX31) in exon 6 was identified in this patient. Patient 2 was presented with aniridia, congenital cataract, lens subluxation and glaucoma. A recurrent nonsense mutation c.718C>T (p.Arg240X) in exon 9 was identified in this patient. The present results expand the mutation spectrum of PAX6 and will be valuable for genetic counseling in the affected families. Additionally, the identification of these mutations reiterates the importance of PAX6 in ocular development and sheds light on the pathogenesis of congenital aniridia.
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影响因子：
30.8
作者：
JORDAN, T;HANSON, I;VANHEYNINGEN, V
通讯作者：
VANHEYNINGEN, V
影响因子：
4.8
作者：
Mishra, R;Gorlov, IP;Saunders, GF
通讯作者：
Saunders, GF
两名中国青少年发病和成人发病的最佳卵黄样黄斑营养不良患者的 Bestropin-1 基因变异及相关临床表现
影响因子：
3.4
作者：
Lin Y;Li T;Ma C;Gao H;Chen C;Zhu Y;Liu B;Lian Y;Huang Y;Li H;Wu Q;Liang X;Jin C;Huang X;Ye J;Lu L
通讯作者：
Lu L
DOI：
10.2147/opth.s11905
发表时间：
2010-10-05
期刊：
Clinical ophthalmology (Auckland, N.Z.)
影响因子：
--
作者：
Adeoti CO;Afolabi AA;Ashaye AO;Adeoye AO
通讯作者：
Adeoye AO
影响因子：
4
作者：
Perez-Solorzano, Sofia;Chacon-Camacho, Oscar F.;Carlos Zenteno, Juan
通讯作者：
Carlos Zenteno, Juan