Hui Liu1, Hankui Liu2, Junxiang Tang1, Qiongfen Lin2, Yuxiu Sun1, Chaohong Wang1, Huanming Yang2, Muhammad Riaz Khan3, Mohamud Walid Peerbux4, Sohail Ahmad4, Ihtisham Bukhari5,6, Jiansheng Zhu7. 1. Maternity and Child Health Hospital of Anhui Province, The Maternal and Child Health Clinical College, Anhui Medical University, Hefei, China. 2. BGI-Shenzhen, Shenzhen, China. 3. School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, China. 4. Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan. 5. School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, China bukhari@ksu.edu.sa. 6. Department of Biochemistry, King Saud University, Riyadh, Kingdom of Saudi Arabia. 7. Maternity and Child Health Hospital of Anhui Province, The Maternal and Child Health Clinical College, Anhui Medical University, Hefei, China jennytiger97@hotmail.com.
Abstract
BACKGROUND: Congenital cataract is the cloudiness of the eye's natural lens and is a primary cause of congenital vision loss. It accounts for almost 10% of childhood vision loss worldwide. METHODS: A four generation Chinese family having seven affected individuals was recruited for the current study. Exome sequencing was performed to identify the genetic cause of congenital cataract. RESULTS: Analysis of data identified a novel frameshift mutation, c.608delC (p.A203fs), in the PITX3 gene. This mutation was only observed in the affected individuals while the unaffected members of the family as well as 100 ethnically matched normal controls did not contain this deletion. CONCLUSION: 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.
BACKGROUND:Congenital cataract is the cloudiness of the eye's natural lens and is a primary cause of congenital vision loss. It accounts for almost 10% of childhood vision loss worldwide. METHODS: A four generation Chinese family having seven affected individuals was recruited for the current study. Exome sequencing was performed to identify the genetic cause of congenital cataract. RESULTS: Analysis of data identified a novel frameshift mutation, c.608delC (p.A203fs), in the PITX3 gene. This mutation was only observed in the affected individuals while the unaffected members of the family as well as 100 ethnically matched normal controls did not contain this deletion. CONCLUSION: 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.