关键词: 鸟氨酸氨甲酰转移酶缺乏症, 女性新生儿, OTC基因, 杂合缺失变异

Abstract:

Clinical data and gene sequencing results of a female newborn with ornithine carbamyltransferase deficiency were analyzed retrospectively. Major symptoms of female newborn (3 days old) were found to have poor response, convulsion, coma and hyperammonemia. The level of citrulline in the blood (4.12 μmol/L) decreased, the level of urine orotic acid increased significantly (166.3 μmol/L). Next generation sequencing (NGS) and qPCR verification showed that exon1-10 of OTC gene was deleted in terms of heterozygosity, the mother carried heterozygous deletion of Exon 2 and Exon 4. The father, sister and twin brother of the female newborn did not carry exon deletion. She acted as the first case with ornithine transcarbamylase deficiency with the deletion of all exons from Exon 1 to Exon 10 for female neonatal onset in China.

Key words: ornithine carbamoyltransferase deficiency disease, female newborn, OTC gene, heterozygotic deletion variation