一个新的 PAX6 变异导致一个中国家庭的无虹膜症。
A novel variant in PAX6 as the cause of aniridia in a Chinese family.
机构信息
Department of Ophthalmology, Chinese PLA General Hospital, 100853, Beijing, China.
Department of Ophthalmology, Hainan Hospital of Chinese PLA General Hospital, 572000, Sanya, Hainan Province, China.
出版信息
BMC Ophthalmol. 2021 May 20;21(1):225. doi: 10.1186/s12886-021-01848-z.
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.
背景
无虹膜症是一种先天性全眼球异常，通常与 PAX6 相关。
方法
对一个中国无虹膜症家系进行眼科检查，包括视力、裂隙灯和眼底镜检查。使用靶向下一代测序技术对无虹膜症基因进行检测，以确定致病突变。
结果
在一个常染色体显性遗传的中国无虹膜症家系中发现了一种新的 PAX6 无义突变 c.619A>T（p.K207*）。与该新突变相关的表型包括眼球震颤、角膜病变、虹膜缺失、白内障和黄斑发育不良。
结论
PAX6 中的新型无义变异是该家系无虹膜症的原因，扩展了 PAX6 突变谱。
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