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

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.