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

摘要

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.