Prenatal diagnosis for a novel homozygous mutation inPKLRgene in an Indian family

    loading  Checking for direct PDF access through Ovid



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.


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.

Related Topics

    loading  Loading Related Articles