A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation
| Autor: | Deok-Gyun Choi, Un-Kyung Kim, Eun Hye Oh, Byeonghyeon Lee, Bo Young Chun, Jin-Sung Park, Yun Jeong Lee |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Male medicine.medical_specialty PAX6 Transcription Factor Optic Disk Video Recording Nystagmus Biology 03 medical and health sciences 0302 clinical medicine Ophthalmology Exome Sequencing Genetics medicine Videonystagmography Humans Point Mutation Genetic Predisposition to Disease medicine.diagnostic_test Point mutation Fundus photography Optic Nerve General Medicine medicine.disease eye diseases Pedigree Coloboma 030104 developmental biology Phenotype Aniridia 030220 oncology & carcinogenesis Child Preschool Mutation (genetic algorithm) Female sense organs PAX6 medicine.symptom Nystagmus Congenital Congenital nystagmus |
| Zdroj: | Gene. 705 |
| ISSN: | 1879-0038 |
| Popis: | Congenital nystagmus (CN) is a heterogeneous disease that shows variable clinical features. There are a few mutations that are known to cause CN. Among them, a PAX6 mutation is known to cause CN with an extremely high frequency of aniridia. Here, we report on a family with an autosomal dominant PAX6 mutation, c.214G > A (p.Gly72Ser.), who presented with CN in the absence of aniridia. This study describes detailed clinical findings, including videonystagmography and fundus photography findings and emphasizes the importance of screening for the PAX6 gene in patients who present with CN in the absence of aniridia, as this will further elucidate the known phenotypes of PAX6-related diseases. |
| Databáze: | OpenAIRE |
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