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Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis
Author(s) -
Aoshima Tsutomu,
Kajita Mitsuharu,
Sekido Yoshitaka,
Mimura Shunji,
Itakura Atsuo,
Yasuda Izumi,
Saheki Takeyori,
Watanabe Kazuyoshi,
Shimokata Kaoru,
Niwa Toshimitsu
Publication year - 2001
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.123
Subject(s) - genomic dna , compound heterozygosity , prenatal diagnosis , microbiology and biotechnology , mutation , point mutation , biology , polymerase chain reaction , genetics , exon , amniotic fluid , fetus , gestation , gene , pregnancy
We report a Japanese boy who died at Day 28 of life because of severe carbamoyl phosphate synthetase I (CPS1) deficiency that was proven by enzyme assay. By analysis of cDNA and genomic DNA, he was shown to be a compound heterozygote with two point mutations of the CPS1 gene, 840G>C leading to an aberrant splicing and 1123C>T (predicting Q375X). The 840G>C was a mutation described in another Japanese family. Since his parents carried each mutation heterozygously, we performed prenatal diagnosis at 16 weeks of his mother's next gestation by multiplex PCR and melting curve analysis in a single capillary containing two‐color fluorescent (LC‐Red 640 and LC‐Red 705) probes on LightCycler. We analyzed genomic DNA extracted from amniotic cells and found that the fetus was homozygous for the wild‐type alleles. At term a healthy girl was born without hyperammonemia. Copyright © 2001 John Wiley & Sons, Ltd.