Identification of a novel PAX6 mutation in a Chinese family with aniridia

被引：4

作者：

Qiu, Jing-Jing ^{[1
]}

Zhang, Qian ^{[1
]}

Geng, Zi-xin ^{[2
,3
,4
]}

Liu, Min ^{[2
,3
,4
]}

Zhong, Zi-lin ^{[2
,3
,4
]}

Chen, Jian-jun ^{[2
,3
,4
]}

Liu, Fei ^{[1
]}

机构：

[1] Nanchang Univ, Dept Ophthalmol, Affiliated Hosp 2, 1 Minde Rd, Nanchang 330006, Jiangxi, Peoples R China

[2] Tongji Univ, Dept Ophthalmol, Shanghai Peoples Hosp 10, Sch Med, Shanghai 200092, Peoples R China

[3] Tongji Univ, Tongji Eye Inst, Sch Med, Shanghai 200092, Peoples R China

[4] Tongji Univ, Dept Med Genet, Sch Med, Shanghai 200092, Peoples R China

来源：

BMC OPHTHALMOLOGY | 2019年 / 19卷 / 1期

关键词：

Aniridia; Autosomal dominant inheritance; PAX6; gene; Mutation; GENE;

D O I：

10.1186/s12886-018-1009-6

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

BackgroundThis study aims to investigate the clinical characterization and causative genetic defect of a four-generation Chinese family with autosomal dominant aniridia.MethodsThe recruited family members underwent comprehensive routine and ophthalmic examinations, and Sanger sequencing was performed to screen the mutation in PAX6.ResultsA 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.ConclusionA 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.

引用

页数：6

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