title: Whole Exome Sequencing Identifies a Novel Mutation in thePITX3Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family.
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 thePITX3gene. 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Maternity and Child Health Hospital of Anhui Province, The Maternal and Child Health Clinical College, Anhui Medical University, Hefei, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Liu
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Hankui
authors.initials: H
authors.lastname: Liu
authors.affiliation: Maternity and Child Health Hospital of Anhui Province, The Maternal and Child Health Clinical College, Anhui Medical University, Hefei, China.
authors.forename: Junxiang
authors.initials: J
authors.lastname: Tang
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Qiongfen
authors.initials: Q
authors.lastname: Lin
authors.affiliation: Maternity and Child Health Hospital of Anhui Province, The Maternal and Child Health Clinical College, Anhui Medical University, Hefei, China.
authors.forename: Yuxiu
authors.initials: Y
authors.lastname: Sun
authors.affiliation: Maternity and Child Health Hospital of Anhui Province, The Maternal and Child Health Clinical College, Anhui Medical University, Hefei, China.
authors.forename: Chaohong
authors.initials: C
authors.lastname: Wang
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Huanming
authors.initials: H
authors.lastname: Yang
authors.affiliation: School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, China.
authors.forename: Muhammad Riaz
authors.initials: MR
authors.lastname: Khan
authors.affiliation: Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan.
authors.forename: Mohamud Walid
authors.initials: MW
authors.lastname: Peerbux
authors.affiliation: Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan.
authors.forename: Sohail
authors.initials: S
authors.lastname: Ahmad
authors.affiliation: School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, China bukhari@ksu.edu.sa.|Department of Biochemistry, King Saud University, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Ihtisham
authors.initials: I
authors.lastname: Bukhari
authors.affiliation: Maternity and Child Health Hospital of Anhui Province, The Maternal and Child Health Clinical College, Anhui Medical University, Hefei, China jennytiger97@hotmail.com.
authors.forename: Jiansheng
authors.initials: J
authors.lastname: Zhu
mesh_terms: D044466:Asian People / Q000235:genetics*; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics; D059472:Exome / Q000235:genetics*; D005190:Family; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; D014157:Transcription Factors; C433629:homeobox protein PITX3
keywords: Blindness; Cataract; Frame-shift Mutation; PITX3 gene; Vision loss