A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus
Abstract Background The aim of this study is to identify the genetic defect in a Chinese family with congenital aniridia combined with cataract and nystagmus. Methods Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, anterior segment photography, a...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2021-10-01
|
| Series: | BMC Ophthalmology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12886-021-02120-0 |
| _version_ | 1818719081373630464 |
|---|---|
| author | Tianwei Qian Chong Chen Caihua Li Qiaoyun Gong Kun Liu Gao Wang Isabelle Schrauwen Xun Xu |
| author_facet | Tianwei Qian Chong Chen Caihua Li Qiaoyun Gong Kun Liu Gao Wang Isabelle Schrauwen Xun Xu |
| author_sort | Tianwei Qian |
| collection | DOAJ |
| description | Abstract Background The aim of this study is to identify the genetic defect in a Chinese family with congenital aniridia combined with cataract and nystagmus. Methods 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. Results 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. Conclusion 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. |
| first_indexed | 2024-12-17T20:01:16Z |
| format | Article |
| id | doaj.art-9aa1164c5f7549eeac670ae8c4c58971 |
| institution | Directory Open Access Journal |
| issn | 1471-2415 |
| language | English |
| last_indexed | 2024-12-17T20:01:16Z |
| publishDate | 2021-10-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Ophthalmology |
| spelling | doaj.art-9aa1164c5f7549eeac670ae8c4c589712022-12-21T21:34:28ZengBMCBMC Ophthalmology1471-24152021-10-012111810.1186/s12886-021-02120-0A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmusTianwei Qian0Chong Chen1Caihua Li2Qiaoyun Gong3Kun Liu4Gao Wang5Isabelle Schrauwen6Xun Xu7Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong UniversityDepartment of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong UniversityGenesky Biotechnologies IncDepartment of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong UniversityDepartment of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong UniversityDepartment of Neurology, Columbia University Medical CenterDepartment of Neurology, Columbia University Medical CenterDepartment of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong UniversityAbstract Background The aim of this study is to identify the genetic defect in a Chinese family with congenital aniridia combined with cataract and nystagmus. Methods 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. Results 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. Conclusion 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.https://doi.org/10.1186/s12886-021-02120-0Congenital aniridiaPAX6DeletionCopy number variant |
| spellingShingle | Tianwei Qian Chong Chen Caihua Li Qiaoyun Gong Kun Liu Gao Wang Isabelle Schrauwen Xun Xu A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus BMC Ophthalmology Congenital aniridia PAX6 Deletion Copy number variant |
| title | A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus |
| title_full | A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus |
| title_fullStr | A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus |
| title_full_unstemmed | A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus |
| title_short | A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus |
| title_sort | novel 4 25 kb heterozygous deletion in pax6 in a chinese han family with congenital aniridia combined with cataract and nystagmus |
| topic | Congenital aniridia PAX6 Deletion Copy number variant |
| url | https://doi.org/10.1186/s12886-021-02120-0 |
| work_keys_str_mv | AT tianweiqian anovel425kbheterozygousdeletioninpax6inachinesehanfamilywithcongenitalaniridiacombinedwithcataractandnystagmus AT chongchen anovel425kbheterozygousdeletioninpax6inachinesehanfamilywithcongenitalaniridiacombinedwithcataractandnystagmus AT caihuali anovel425kbheterozygousdeletioninpax6inachinesehanfamilywithcongenitalaniridiacombinedwithcataractandnystagmus AT qiaoyungong anovel425kbheterozygousdeletioninpax6inachinesehanfamilywithcongenitalaniridiacombinedwithcataractandnystagmus AT kunliu anovel425kbheterozygousdeletioninpax6inachinesehanfamilywithcongenitalaniridiacombinedwithcataractandnystagmus AT gaowang anovel425kbheterozygousdeletioninpax6inachinesehanfamilywithcongenitalaniridiacombinedwithcataractandnystagmus AT isabelleschrauwen anovel425kbheterozygousdeletioninpax6inachinesehanfamilywithcongenitalaniridiacombinedwithcataractandnystagmus AT xunxu anovel425kbheterozygousdeletioninpax6inachinesehanfamilywithcongenitalaniridiacombinedwithcataractandnystagmus AT tianweiqian novel425kbheterozygousdeletioninpax6inachinesehanfamilywithcongenitalaniridiacombinedwithcataractandnystagmus AT chongchen novel425kbheterozygousdeletioninpax6inachinesehanfamilywithcongenitalaniridiacombinedwithcataractandnystagmus AT caihuali novel425kbheterozygousdeletioninpax6inachinesehanfamilywithcongenitalaniridiacombinedwithcataractandnystagmus AT qiaoyungong novel425kbheterozygousdeletioninpax6inachinesehanfamilywithcongenitalaniridiacombinedwithcataractandnystagmus AT kunliu novel425kbheterozygousdeletioninpax6inachinesehanfamilywithcongenitalaniridiacombinedwithcataractandnystagmus AT gaowang novel425kbheterozygousdeletioninpax6inachinesehanfamilywithcongenitalaniridiacombinedwithcataractandnystagmus AT isabelleschrauwen novel425kbheterozygousdeletioninpax6inachinesehanfamilywithcongenitalaniridiacombinedwithcataractandnystagmus AT xunxu novel425kbheterozygousdeletioninpax6inachinesehanfamilywithcongenitalaniridiacombinedwithcataractandnystagmus |