ATP7B Gene Variant Profile İdentified by NGS in Wilson’s Disease

Gorukmez, Orhan; Özgür, Taner; Gorukmez, Ozlem; Topak, Ali

doi:10.1080/15513815.2023.2260005

Fetal and Pediatric Pathology

2023

DOI: 10.1080/15513815.2023.2260005

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ATP7B Gene Variant Profile İdentified by NGS in Wilson’s Disease

Orhan Gorukmez,

Taner Özgür,

Ozlem Gorukmez

et al.

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2024

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Cited by 1 publication

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A Case of Wilson's Disease Suspected to Involve a Novel Genetic Mutation of ATP7B Gene, Requiring a Differential Diagnosis with Non-alcoholic Steatohepatitis

Minemura,

Fukuda,

Tajiri

et al. 2024

Intern. Med.

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A 19-year-old Japanese man was referred for a further evaluation of liver dysfunction. Despite the absence of symptoms or obesity, the liver biopsy results were consistent with non-alcoholic steatohepatitis. Subsequent investigations revealed low serum ceruloplasmin, increased urinary copper excretion, and a known mutation c.3809A>G (p.Asn1270Ser) in the copper-transporting enzyme P-type ATPase (ATP7B) gene, leading to a diagnosis of Wilson's disease. A previously unreported variant, i.e., c.3866A>T (p.Asp1289Val) was detected on the patient's other allele and was considered a novel mutation, classified as 'likely pathogenic' according to the American College of Medical Genetics guidelines.

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A Case of Wilson's Disease Suspected to Involve a Novel Genetic Mutation of ATP7B Gene, Requiring a Differential Diagnosis with Non-alcoholic Steatohepatitis

Minemura,

Fukuda,

Tajiri

et al. 2024

Intern. Med.

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ATP7B Gene Variant Profile İdentified by NGS in Wilson’s Disease

Cited by 1 publication

References 19 publications

A Case of Wilson's Disease Suspected to Involve a Novel Genetic Mutation of ATP7B Gene, Requiring a Differential Diagnosis with Non-alcoholic Steatohepatitis

A Case of Wilson's Disease Suspected to Involve a Novel Genetic Mutation of ATP7B Gene, Requiring a Differential Diagnosis with Non-alcoholic Steatohepatitis

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