| First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation P.S. Kedar1, S. Nampoothiri2, S. Sreedhar2 , K. Ghosh1, K. Shimizu3, H. Kanno4 and R.B. Colah1 1Institute of Immunohaematology, Indian Council of Medical Research, K.E.M. Hospital Campus, Parel, Mumbai, India 2Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Ernakulam, Cochin, India 3Department of Bioscience and Bioinformatics, Kyushu Institute of Technology, Iizuka, Fukuoka, Japan 4Department of Transfusion Medicine and Cell Processing,Tokyo Women's Medical University, Tokyo, Japan Corresponding author: R.B. Colah E-mail: colahrb@gmail.com Genet. Mol. Res. 6 (2): 470-475 (2007) Received December 18, 2006 Accepted June 05, 2007 Published June 30, 2007 ABSTRACT. Pyruvate kinase (PK) deficiency is a rare red cell glycolytic enzymopathy. The purpose of the present investigation was to offer prenatal diagnosis for PK deficiency to a couple who had a previous child with severe enzyme deficiency and congenital non-spherocytic hemolytic anemia. PK deficiency was identified in the family by assaying the enzyme activity in red cells. Chorionic villus sampling was performed in an 11-week gestation and the mutation was located in exon 10 of the PKLR gene characterized by polymerase chain reaction and using restriction endonuclease digestion with the MspI enzyme, which was confirmed by DNA sequencing on the ABI 310 DNA sequencer. Both the parents were heterozygous for the 1436G→A [479 Arg→His] mutation in exon 10 and the proband was homozygous for this mutation. The fetus was also heterozygous for this mutation and the pregnancy was continued. Prenatal diagnosis allowed the parents with a severely affected child with PK deficiency to have the reproductive choice of having the fetus tested in a subsequent pregnancy. Key words: Pyruvate kinase deficiency, Pyruvate kinase-Amish, Neonatal jaundice, Prenatal diagnosis, India |
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