Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family
Copyright policy )Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family
AbstractObjectiveTo provide prenatal diagnosis of pyruvate kinase deficiency by direct DNA analysis in an Indian family.Materials and MethodThis case report describes diagnosis of a novel homozygous mutation in PKLR gene that subsequently helped the family in the next pregnancy.ResultsAdvancement in molecular genetics has resulted in the prenatal diagnosis of relatively uncommon genetic disorders like pyruvate kinase deficiency.ConclusionThis case reiterates the importance of application of molecular genetics in clinical practice and prenatal diagnosis especially for rare, incurable genetic disorders. Copyright © 2006 John Wiley & Sons, Ltd.
Male, DNA Mutational Analysis, Homozygote, Pyruvate Kinase, Mutation, Missense, Consanguinity, Child, Preschool, Prenatal Diagnosis, Humans, Family, Female, Molecular Biology, Metabolism, Inborn Errors
Male, DNA Mutational Analysis, Homozygote, Pyruvate Kinase, Mutation, Missense, Consanguinity, Child, Preschool, Prenatal Diagnosis, Humans, Family, Female, Molecular Biology, Metabolism, Inborn Errors
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