New novel mutation of the ATP7B gene in a family with Wilson disease

• Published in: Journal of the neurological sciences Vol. 313; no. 1; pp. 129 - 131
• Main Authors: Lee, Jun-Young, Kim, Young-Hyun, Kim, Tae-Woo, Oh, Sun-Young, Kim, Dal-Sik, Shin, Byoung-Soo
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier B.V 15.02.2012; Elsevier
• Subjects: 13q14.3; Adenosine Triphosphatases - genetics; Adolescent; ATP7B; Base Sequence; Biological and medical sciences; Cation Transport Proteins - genetics; Copper-transporting ATPases; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Hepatolenticular degeneration; Hepatolenticular Degeneration - diagnosis; Hepatolenticular Degeneration - genetics; Humans; Male; Medical sciences; Molecular Sequence Data; Neurology; Pedigree; Sequence Deletion - genetics; Wilson disease; 13q14.3; Hepatolenticular degeneration; ATP7B; Wilson disease; Nervous system diseases; Metabolic diseases; Digestive diseases; Degeneration; Mutation; Copper; Enzymopathy; Genetic disease
• ISSN: 0022-510X; 1878-5883
• DOI: 10.1016/j.jns.2011.09.007

Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The WD gene codes for a copper transporting P-type ATPase (ATP7B) are located on chromosome 13q14.3. Mutation of this gene disrupts copper homeostasis, resulting in the accumulation of copper in the liver, brain, kidneys and corneas and copper toxication at these sites. Since the detection of the WD gene in 1993, approximately 300 disease-specific muations have been identified. We recently evaluated a Korean family with WD. The proband, a 17-year-old boy, visited our hospital due to abnormal behaviors including generalized slow movement, dysphagia, drooling and ataxia. Laboratory results revealed decreases in serum copper and ceruloplasmin and an increase in urinary excretion of copper. He had liver cirrhosis, brain lesions and Kayser–Fleischer corenal rings. Molecular genetic analysis of the ATP7B gene demonstrated that he was heterozygous for deletion mutation c.2697_2723del27 in exon 11. Further study of family members revealed that his father and younger brother had the same mutation. The c.2697_2723del27 deletion mutation in exon 11 has not yet been reported as a causative muation of WD and is an in-frame deletion not expected to lead to a frame shift. Therefore, we report a novel mutation of the ATP7B gene in a family with WD.