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 language | English |
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Pages (from-to) | 117-118 |
Number of pages | 2 |
Journal | Prenatal Diagnosis |
Volume | 27 |
Issue number | 2 |
DOIs | |
Publication status | Published - Feb 2007 |
Keywords
- Molecular genetics
- Prenatal diagnosis
- Pyruvate kinase deficiency
ASJC Scopus subject areas
- Genetics(clinical)
- Obstetrics and Gynaecology