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 |
|---|---|
| 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
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Gupta, N., Bianchi, P., Fermo, E., Kabra, M., Warang, P., Kedar, P., Gupta, N., & Colah, R. (2007). Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family. Prenatal Diagnosis, 27(2), 117-118. https://doi.org/10.1002/pd.1616