DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient.

Abstract

Wilson disease is an autosomal recessive disorder caused by defective function of the copper transporting protein ATP7B. Approximately 520 Wilson disease-causing mutations have been described to date. In this study we report the use of DNA and RNA analysis for molecular characterization of a gross deletion of the ATP7B gene detected in homozygosity in a Wilson disease patient. The c.51+384_1708-953del mutation spans an 8798 bp region of the ATP7B gene from exon 2 to intron 4. The results obtained suggest that the combination of DNA and RNA analyses can be used for molecular characterization of gross ATP7B deletions, thus improving genetic counselling and diagnosis of Wilson disease. Moreover these studies, help to better establish the molecular mechanisms producing Wilson disease.

DOI: 10.1016/j.mcp.2011.07.003

Cite this paper

@article{Incollu2011DNAAR, title={DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient.}, author={Simona Incollu and Maria Barbara Lepori and Antonietta Zappu and Valentina Dess{\`i} and Maria Cristina Noli and Eva Mameli and Raffaele Iorio and Giusy Ranucci and Antonio Cao and Georgios Loudianos}, journal={Molecular and cellular probes}, year={2011}, volume={25 5-6}, pages={195-8} }