A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus.
A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus.
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DOI：
10.1186/s12886-021-02120-0
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发表时间：
2021-10-05
影响因子：
2
通讯作者：
Xu X
中科院分区：
文献类型：
--
作者：
Qian T;Chen C;Li C;Gong Q;Liu K;Wang G;Schrauwen I;Xu X
本研究的目的是鉴定一个先天性无虹膜合并白内障和眼球震颤的中国家系的遗传缺陷。进行完整的眼科检查，包括裂隙灯生物显微镜检查、扩张间接检眼镜检查、眼前节摄影和眼前节光学相干断层扫描（OCT）。收集所有家庭成员的血液样本，提取基因组DNA。对所有家族成员进行基因组测序，并使用桑格测序验证变异断点。该家系共13名成员，包括7名患者和6名正常人。该家系患者的眼科检查符合先天性无虹膜合并白内障和眼球震颤。发现一种新的PAX 6基因5′端杂合缺失（NC_000011.10：g.31802307_31806556del）。我们检测到一个新的缺失PAX 6负责先天性无虹膜在这个中国家庭的受影响的个人。本研究发现的PAX 6基因4.25 kb的缺失可能进一步扩大了PAX 6基因的遗传缺陷。在线版本包含补充材料，可通过10.1186/s12886-021-02120-0获得。
The aim of this study is to identify the genetic defect in a Chinese family with congenital aniridia combined with cataract and nystagmus. Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, anterior segment photography, and anterior segment optical coherence tomography (OCT) were performed. Blood samples were collected from all family members and genomic DNA was extracted. Genome sequencing was performed in all family members and Sanger sequencing was used to verify variant breakpoints. All the thirteen members in this Chinese family, including seven patients and six normal people, were recruited in this study. The ophthalmic examination of affected patients in this family was consistent with congenital aniridia combined with cataract and nystagmus. A novel heterozygous deletion (NC_000011.10:g.31802307_31806556del) containing the 5′ region of PAX6 gene was detected that segregated with the disease. We detected a novel deletion in PAX6 responsible for congenital aniridia in the affected individuals of this Chinese family. The novel 4.25 kb deletion in PAX6 gene of our study would further broaden the genetic defects of PAX6 associated with congenital aniridia. The online version contains supplementary material available at 10.1186/s12886-021-02120-0.
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DOI：
10.1002/neu.480241009
发表时间：
1993-10-01
期刊：
JOURNAL OF NEUROBIOLOGY
影响因子：
--
作者：
CHALEPAKIS, G;STOYKOVA, A;GRUSS, P
通讯作者：
GRUSS, P
影响因子：
30.8
作者：
JORDAN, T;HANSON, I;VANHEYNINGEN, V
通讯作者：
VANHEYNINGEN, V
一种新型的PAX6胡说八道突变在具有各种眼异常的伊朗家族中鉴定出来。
影响因子：
1.5
作者：
Torkashvand A;Mohebbi M;Hashemi H
通讯作者：
Hashemi H
影响因子：
14.9
作者：
MacDonald JR;Ziman R;Yuen RK;Feuk L;Scherer SW
通讯作者：
Scherer SW
影响因子：
2.7
作者：
Kim, J;Lauderdale, JD
通讯作者：
Lauderdale, JD