A novel variant in PAX6 as the cause of aniridia in a Chinese family
| Autor: | Wq X, LH Qv, X Jin, Houbin Huang, W Liu |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
congenital hereditary and neonatal diseases and abnormalities China Heterozygote Visual acuity genetic structures PAX6 Transcription Factor media_common.quotation_subject Nonsense mutation Nonsense Autosomal dominant inheritance Nystagmus Ophthalmology medicine Humans Eye Proteins Aniridia media_common PAX6 gene business.industry General Medicine RE1-994 medicine.disease Hypoplasia eye diseases Pedigree Mutation (genetic algorithm) Mutation PAX6 sense organs medicine.symptom business Research Article |
| Zdroj: | BMC Ophthalmology BMC Ophthalmology, Vol 21, Iss 1, Pp 1-7 (2021) |
| ISSN: | 1471-2415 |
| Popis: | Background Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly. Methods The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree. The targeted next-generation sequencing of aniridia genes was used to identify the causative mutation. Results A novel heterozygous PAX6 nonsense mutation c.619A > T (p.K207*) was identified in the Chinese autosomal dominant family with aniridia. Phenotype related to the novel mutation included nystagmus, keratopathy, absence of iris, cataract and foveal hypoplasia. Conclusions The novel nonsense variation in PAX6 was the cause of aniridia in this family, which expanded the spectrum of the PAX6 mutation. |
| Databáze: | OpenAIRE |
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