The first successful prenatal diagnosis on a Korean family with citrullinemia.
DNA prenatal diagnosis was successfully performed on a family with citrullinemia. The father carried the G324S mutation and the mother carried the IVS6-2A > G mutation in the argininosuccinate synthase gene. They had a previous child with citrullinemia who died in the week after birth owing to complicated hyperammonemia. The lost child turned out to be a compound heterozygote. DNA was extracted from the cultured amniotic cells after amniocentesis done at 18-week gestation. For the detection of the G324S mutation, the PCR and restriction fragment length polymorphism method was used, and for the IVS6-2A > G mutation, allele-specific PCR was performed. The fetus was found to carry G324S but not IVS6-2A > G, suggesting a heterozygote carrier. Pregnancy was continued and a healthy boy was born. Plasma amino acid analysis performed on the third day after birth was normal and the serial ammonia level was in the normal range. A molecular study on his genomic DNA after birth also agreed with the previous fetal DNA analysis. He is now 2-months old with normal growth and development.
Hong
K M
KM
Department of Biochemistry, Wonkwang University College of Medicine, Iksan, Korea.
Paik
M K
MK
Yoo
O J
OJ
Hahn
S H
SH
D000328:Adult; D000649:Amniocentesis; D020159:Citrullinemia / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005820:Genetic Testing / Q000379:methods / Q000592:standards; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007723:Korea; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000592:standards*