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

Neerja Gupta, Paola Bianchi, Elisa Fermo, Madhulika Kabra, Prashant Warang, Prabhakar Kedar, Nomeeta Gupta, Roshan Colah

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)117-118
Number of pages2
JournalPrenatal Diagnosis
Volume27
Issue number2
DOIs
Publication statusPublished - Feb 2007

Keywords

  • Molecular genetics
  • Prenatal diagnosis
  • Pyruvate kinase deficiency

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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