Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family

Prenat Diagn. 2007 Feb;27(2):117-8. doi: 10.1002/pd.1616.

Abstract

Objective: To provide prenatal diagnosis of pyruvate kinase deficiency by direct DNA analysis in an Indian family.

Materials and method: 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.

Conclusion: This case reiterates the importance of application of molecular genetics in clinical practice and prenatal diagnosis especially for rare, incurable genetic disorders.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Consanguinity
  • DNA Mutational Analysis
  • Family
  • Female
  • Homozygote
  • Humans
  • Male
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / genetics
  • Molecular Biology
  • Mutation, Missense*
  • Prenatal Diagnosis*
  • Pyruvate Kinase / deficiency*
  • Pyruvate Kinase / genetics*

Substances

  • Pyruvate Kinase