title: Prenatal genetic diagnosis of retinoblastoma and report of RB1 gene mutation from India.
abstract: Retinoblastoma is the most common intraocular malignancy of childhood. There is a paucity of genetic testing and prenatal genetic diagnosis from India, which has the highest incidence worldwide.
  
  
  
  RB1 gene screening of an 8-month-old female child with bilateral retinoblastoma was accomplished using next generation sequencing. The results were used for prenatal testing in this family.
  
  
  
  A heterozygous germline mutation (chr13: 48951119delA; c.1281delA) was detected, which resulted in premature termination of a protein product (p.Glu428Argfs*29). Prenatal testing in maternal DNA revealed carrier status of the mother. Further clinical examination in the family members revealed retinocytomas in both eyes of the mother and maternal grandmother. Prenatal genetic testing of the developing fetus showed positivity for the mutation. As the family preferred to continue the pregnancy, serial 3-D ultrasounds were carried out every 2 weeks in the third trimester. Ten days after delivery, small extrafoveal tumors developed in both eyes, which were then treated successfully with transpupillary thermotherapy.
  
  
  
  We report the significance of genetic testing in the early detection and management of retinoblastoma from India.
authors.affiliation: a Department of Pediatric Retina & Ocular Oncology , Aravind Eye Hospital & Postgraduate Institute of Ophthalmology , Coimbatore , Tamilnadu , India.
authors.forename: Parag K
authors.initials: PK
authors.lastname: Shah
authors.affiliation: b Sankara Nethralaya ONGC Department of Genetics and Molecular Biology , Vision Research Foundation , Chennai , Tamilnadu , India.
authors.forename: S
authors.initials: S
authors.lastname: Sripriya
authors.affiliation: a Department of Pediatric Retina & Ocular Oncology , Aravind Eye Hospital & Postgraduate Institute of Ophthalmology , Coimbatore , Tamilnadu , India.
authors.forename: V
authors.initials: V
authors.lastname: Narendran
authors.affiliation: b Sankara Nethralaya ONGC Department of Genetics and Molecular Biology , Vision Research Foundation , Chennai , Tamilnadu , India.
authors.forename: A J
authors.initials: AJ
authors.lastname: Pandian
mesh_terms: D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D016190:Carboplatin / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D005047:Etoposide / Q000627:therapeutic use; D005091:Exons / Q000235:genetics; D005260:Female; D016161:Genes, Retinoblastoma; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D007194:India; D007223:Infant; D010375:Pedigree; D011296:Prenatal Diagnosis; D061766:Proton Therapy; D019572:Retinal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D012175:Retinoblastoma / Q000175:diagnosis / Q000235:genetics*; D056286:Retinoblastoma Binding Proteins / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D014750:Vincristine / Q000627:therapeutic use
chemical_list: C000606393:RB1 protein, human; D056286:Retinoblastoma Binding Proteins; D014750:Vincristine; D005047:Etoposide; D016190:Carboplatin; D044767:Ubiquitin-Protein Ligases
keywords: India; RB1 gene; prenatal; retinoblastoma