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- Title
Identification of a novel PAX6 mutation in a Chinese family with aniridia.
- Authors
Qiu, Jing-Jing; Zhang, Qian; Geng, Zi-xin; Liu, Min; Zhong, Zi-lin; Chen, Jian-jun; Liu, Fei
- Abstract
<bold>Background: </bold>This study aims to investigate the clinical characterization and causative genetic defect of a four-generation Chinese family with autosomal dominant aniridia.<bold>Methods: </bold>The recruited family members underwent comprehensive routine and ophthalmic examinations, and Sanger sequencing was performed to screen the mutation in PAX6.<bold>Results: </bold>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.<bold>Conclusion: </bold>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.
- Subjects
CHINA; ANIRIDIA; EYE examination; HUMAN deletion mutation; TRANSCRIPTION factors; NUCLEIC acid isolation methods; ASIANS; DISEASE susceptibility; GENETIC mutation; PROTEINS; ARTHRITIS Impact Measurement Scales
- Publication
BMC Ophthalmology, 2019, Vol 19, Issue 1, pN.PAG
- ISSN
1471-2415
- Publication type
journal article
- DOI
10.1186/s12886-018-1009-6