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[ASS1 mutation leading to citrullinemia I in a Chinese Han family].

Ping Hu, Xiaoyan Zhou, Dingyuan Ma, Yun Sun, Xiaojuan Zhang, Shuping Han, Zhangbin Yu, Tao Jiang, Yulin Chen, Zhengfeng Xu

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Abstract

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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What this paper is about

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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Available abstract

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.

Key concepts: Missense mutation, Exon, Mutation, Genetics, Citrullinemia, Biology, genomic DNA, Gene

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