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

Abstract

To provide prenatal diagnosis of pyruvate kinase deficiency by direct DNA analysis in an Indian family. This case report describes diagnosis of a novel homozygous mutation in PKLR gene that subsequently helped the family in the next pregnancy. Advancement in molecular genetics has resulted in the prenatal diagnosis of relatively uncommon genetic disorders like pyruvate kinase deficiency. This case reiterates the importance of application of molecular genetics in clinical practice and prenatal diagnosis especially for rare, incurable genetic disorders.