Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family.
OBJECTIVE
To provide prenatal diagnosis of pyruvate kinase deficiency by direct DNA analysis in an Indian family.


METHODS
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.


CONCLUSIONS
This case reiterates the importance of application of molecular genetics in clinical practice and prenatal diagnosis especially for rare, incurable genetic disorders.
Gupta
Neerja
N
Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Bianchi
Paola
P
Fermo
Elisa
E
Kabra
Madhulika
M
Warang
Prashant
P
Kedar
Prabhakar
P
Gupta
Nomeeta
N
Colah
Roshan
R
D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D008967:Molecular Biology; D020125:Mutation, Missense; D011296:Prenatal Diagnosis; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics*
D011770:Pyruvate Kinase