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. Copyright (C) 2006 John Wiley & Sons, Ltd.