Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University, No. 100 Haining Rd., Shanghai, 200080, China.
National Clinical Research Center for Eye Diseases, Shanghai, China.
BMC Ophthalmol. 2021 Oct 5;21(1):353. doi: 10.1186/s12886-021-02120-0.
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.
本研究旨在鉴定一个同时患有先天性无虹膜、白内障和眼球震颤的中国家庭的遗传缺陷。
对所有家族成员进行全面的眼科检查，包括裂隙灯生物显微镜检查、散瞳间接检眼镜检查、眼前节照相和眼前节光学相干断层扫描（OCT）。采集所有家族成员的血样并提取基因组 DNA。对所有家族成员进行基因组测序，并使用 Sanger 测序验证变异断点。
本研究共纳入了这个中国家庭的 13 名成员，包括 7 名患者和 6 名正常人。该家族中受影响患者的眼科检查结果与先天性无虹膜合并白内障和眼球震颤一致。检测到一个新的杂合性缺失（NC_000011.10:g.31802307_31806556del），包含 PAX6 基因的 5' 区域，与疾病共分离。
我们在该中国家庭的受影响个体中检测到 PAX6 基因的一个新缺失，该缺失导致了先天性无虹膜。本研究中 PAX6 基因的 4.25kb 新缺失进一步拓宽了 PAX6 相关先天性无虹膜的遗传缺陷。
