title: Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma.
abstract: BACKGROUND
  Primary congenital glaucoma (PCG) is a severe ocular disorder that presents early in life. Cytochrome P4501B1 (CYP1B1) and latent transforming growth factor-beta-binding protein 2 (LTBP2) are the most commonly mutated genes in PCG.
  
  
  OBJECTIVE
  To investigate the causative genetic mutations in eight Indian families with PCG.
  
  
  METHODS
  Whole-exome sequencing was applied to analyze the genomic DNA samples from PCG probands. Sanger sequencing was utilized to confirm the identified mutations.
  
  
  RESULTS
  We identified four homozygous missense mutations (c.1405C>T, p.R469W; c.1397G>T, p.G466V; c.1198C>T, p.P400S; and c.1103G>A, p.R368H) in CYP1B1 and one nonsense mutation (c.2421G>A, p.W807X) in LTBP2 in eight Indian families. Among the five mutations identified, G466V in CYP1B1 and W807X in LTBP2 represent novel mutations.
  
  
  CONCLUSIONS
  Our study expands the mutational spectrum of PCG in the Indian population.
authors.affiliation: 1 Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China , Chengdu, China .|2 Department of Clinical Laboratory, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , Chengdu, China .|3 Institue Of Laboratory Animal Sciences, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , Chengdu, Sichuan, China .|4 Key Laboratory for NeuroInformation of Ministry of Education and Medicine Information Center, University of Electronic Science and Technology of China , Chengdu, Sichuan, China .
authors.forename: Yeming
authors.initials: Y
authors.lastname: Yang
authors.affiliation: 1 Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China , Chengdu, China .|2 Department of Clinical Laboratory, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , Chengdu, China .|4 Key Laboratory for NeuroInformation of Ministry of Education and Medicine Information Center, University of Electronic Science and Technology of China , Chengdu, Sichuan, China .
authors.forename: Lin
authors.initials: L
authors.lastname: Zhang
authors.affiliation: 1 Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China , Chengdu, China .|2 Department of Clinical Laboratory, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , Chengdu, China .|5 Institute of Chengdu Biology, Sichuan Translational Medicine Hospital , Chinese Academy of Sciences, Chengdu, China .
authors.forename: Shujin
authors.initials: S
authors.lastname: Li
authors.affiliation: 1 Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China , Chengdu, China .|2 Department of Clinical Laboratory, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , Chengdu, China .|3 Institue Of Laboratory Animal Sciences, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , Chengdu, Sichuan, China .|4 Key Laboratory for NeuroInformation of Ministry of Education and Medicine Information Center, University of Electronic Science and Technology of China , Chengdu, Sichuan, China .|5 Institute of Chengdu Biology, Sichuan Translational Medicine Hospital , Chinese Academy of Sciences, Chengdu, China .
authors.forename: Xianjun
authors.initials: X
authors.lastname: Zhu
authors.affiliation: 6 Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital , Madurai, Tamilnadu, India .
authors.forename: Periasamy
authors.initials: P
authors.lastname: Sundaresan
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D065633:Cytochrome P-450 CYP1B1 / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D055106:Genome-Wide Association Study; D005901:Glaucoma / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007194:India; D007223:Infant; D053779:Latent TGF-beta Binding Proteins / Q000235:genetics* / Q000378:metabolism; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D005136:Eye Proteins; C509035:LTBP2 protein, human; D053779:Latent TGF-beta Binding Proteins; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1
keywords: CYP1B1; LTBP1; primary congenital glaucoma