Whole Exome Sequencing Identifies a Novel Mutation in the PITX3 Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family.

Hui Liu,Hankui Liu,Junxiang Tang,Qiongfen Lin,Yuxiu Sun,Chaohong Wang,Huanming Yang,Muhammad Riaz Khan, Mohamud Walid Peerbux,Sohail Ahmad,Ihtisham Bukhari,Jiansheng Zhu

Annals of clinical and laboratory science（2017）

Cited 31|Views12

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Abstract

These findings suggest that p.A203fs is the cause of cataracts in the recruited family. This information would be further helpful in the genetic diagnosis of cataract and in the genetic counseling of similar patients.

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Key words

Blindness,Cataract,Frame-shift Mutation,PITX3 gene,Vision loss

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