title: Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family.
abstract: OBJECTIVE
  To provide prenatal diagnosis of pyruvate kinase deficiency by direct DNA analysis in an Indian family.
  
  
  METHODS
  This case report describes diagnosis of a novel homozygous mutation in PKLR gene that subsequently helped the family in the next pregnancy.
  
  
  RESULTS
  Advancement in molecular genetics has resulted in the prenatal diagnosis of relatively uncommon genetic disorders like pyruvate kinase deficiency.
  
  
  CONCLUSIONS
  This case reiterates the importance of application of molecular genetics in clinical practice and prenatal diagnosis especially for rare, incurable genetic disorders.
authors.affiliation: Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.forename: Paola
authors.initials: P
authors.lastname: Bianchi
authors.forename: Elisa
authors.initials: E
authors.lastname: Fermo
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: Prashant
authors.initials: P
authors.lastname: Warang
authors.forename: Prabhakar
authors.initials: P
authors.lastname: Kedar
authors.forename: Nomeeta
authors.initials: N
authors.lastname: Gupta
authors.forename: Roshan
authors.initials: R
authors.lastname: Colah
mesh_terms: D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D008967:Molecular Biology; D020125:Mutation, Missense; D011296:Prenatal Diagnosis; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics*
chemical_list: D011770:Pyruvate Kinase