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Updated: Sep 27, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene]
1Da-An Gene Diagnostic Center, Sun Yat-Sen University, Guangzhou, Guangdong, PR China.
Objective:
To determine the molecular basis of late onset ornithine transcarbamylase (OTC) deficiency in a Chinese family of Han nationality and the exon sequences of OTC gene of this patient.
Methods:
Polymerase chain reaction-single strand conformation polymorphism and direct sequencing were used to identify the mutation type.
Results:
A missense mutation E122G in the conserved residue of exon 4 was identified which is unreported before.
Conclusion:
The E122G mutation in human OTC gene may cause late onset OTC deficiency.
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