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Updated: May 26, 2026
The Lambda Select cII Mutation Detection System
Published on: April 26, 2018
[ASS1 mutation leading to citrullinemia I in a Chinese Han family]
Ping Hu1, Xiao-yan Zhou, Ding-yuan Ma
1Nanjing Medical University, Nanjing, Jiangsu, People's Republic of China.
Objective:
To investigate potential mutation of the ASS1 gene in a male infant with acute citrullinemia type I.
Methods:
Genomic DNA was prepared from peripheral blood samples of the family members. Mutation analysis of the 14 ASS1 exons was carried out by PCR and direct DNA sequencing.
Results:
A homozygous missense mutation of c.970G>A located in exon 13, which results in p.G324S, was identified in the child. Sequencing of the parents showed a heterozygous status for the same mutation.
Conclusion:
A missense mutation of c.970G>A in the ASS1 gene is responsible for the pathogenesis of the disease in the infant.
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