2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Mutation spectrum of Wilson disease in Taiwan

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This study aimed to investigate the spectrum of Wilson disease genotypes in Taiwan to assist in clinical management and genetic counseling. A total of 57 cases with clinical suspicion of Wilson disease were analyzed from March 2020 to October 2022. The median age of the cohort was 27 years, and the male to female ratio was 1.48. All samples were examined for the ATP7B gene using targeted next-generation sequencing, with an average turnaround time of 23 days. <br /><br />A total of 27 variants were identified, including three novel variants: p.Ile161Asn, p.Lys175GlnfsTer29, and p.Gly1259fs. The most prevalent variant was p.Arg778Leu, followed by p.Pro992Leu and p.Val1106Ile. Missense mutation was the most frequent mutation type, and most variants were located in exon 2, which is associated with the copper binding domain. <br /><br />The results showed that 74% of cases were positive for Wilson disease, and 9% were potential carriers. This information can be utilized for rapid diagnosis and genetic counseling for patients with Wilson disease in Taiwan. A map of identified ATP7B mutations was presented in the study, including previously reported variants, novel variants (in blue and orange letters respectively), and novel mutations (in italic black bold letters). The study also included a distribution of variants in exons, and a predicted model of the ATP7B protein built by AlphaFold. <br /><br />In conclusion, this study provides insights into the genotype spectrum of Wilson disease in Taiwan, contributing to the clinical management and genetic counseling for patients.

Asset Subtitle

Presenting Author - Yu-Hsuan Huang, MS; Co-Author - Chin-Hsien Lin, MD, PhD; Co-Author - Ni-Chung Lee, MD, PhD; Co-Author - Yin-Hsiu Chien, MD, PhD; Co-Author - Huey-Ling Chen, MD, PhD; Co-Author - Wuh-Liang Hwu, MD, PhD; Co-Author - Yen-Hsuan Ni, MD, PhD;

Meta Tag

Gastrointestinal System

NextGen Sequencing

Sequencing

Co-Author Chin-Hsien Lin, MD, PhD

Co-Author Ni-Chung Lee, MD, PhD

Co-Author Yin-Hsiu Chien, MD, PhD

Co-Author Huey-Ling Chen, MD, PhD

Co-Author Wuh-Liang Hwu, MD, PhD

Co-Author Yen-Hsuan Ni, MD, PhD

Presenting Author Yu-Hsuan Huang, MS

Keywords

Wilson disease genotypes

Taiwan

clinical management

genetic counseling

ATP7B gene

next-generation sequencing

variants

novel variants

mutation type

exon distribution