| Autor: |
Jing-Jing Qiu, Qian Zhang, Zi-xin Geng, Min Liu, Zi-lin Zhong, Jian-jun Chen, Fei Liu |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
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| Zdroj: |
BMC Ophthalmology, Vol 19, Iss 1, Pp 1-6 (2019) |
| Druh dokumentu: |
article |
| ISSN: |
1471-2415 |
| DOI: |
10.1186/s12886-018-1009-6 |
| Popis: |
Abstract Background This study aims to investigate the clinical characterization and causative genetic defect of a four-generation Chinese family with autosomal dominant aniridia. Methods The recruited family members underwent comprehensive routine and ophthalmic examinations, and Sanger sequencing was performed to screen the mutation in PAX6. Results A novel heterozygous PAX6 deletion c.435_445delTAGCGAAAAGC (p.Ser146ThrfsX9) in exon 7 was identified in all affected individuals, but this was absent in any of the unaffected family members and in the 200 unrelated controls. Conclusion A novel deletion in the PAX6 gene was identified in a Chinese family associated with aniridia, which expands the spectrum of the PAX6 mutation and its associated phenotype. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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