期刊
ANNALS OF MEDICINE
卷 55, 期 2, 页码 -出版社
TAYLOR & FRANCIS LTD
DOI: 10.1080/07853890.2023.2276824
关键词
Copy number variants; uncertain significance; haploinsufficient; triplosensitive; genetic counselling
This study retrospectively evaluated 75 samples of a special type of VUS (HT-VUS), and found that the incidence of HT-VUS was not statistically different between different sample groups. It was also suggested that HT-VUS involving introns and HT-VUS including terminal coding exons might be clinically neutral.
Background: Copy number variants of uncertain significance (VUS) has brought much distress for patients and great counselling challenges for clinicians. Of these, a special type of VUS (HT-VUS), harbouring one or both breakpoints within the established haploinsufficient or triplosensitive genes, were considered to be more likely to cause clinical effects compared with other types of VUS. Methods: We retrospectively evaluated the properties and clinical significance of those HT-VUS samples in clinical testing for chromosome microarray analysis (CMA). Results: A total of 7150 samples were selected for HT-VUS screening, and 75 (1.05%) subjects with 75 HT-VUS were found. The majority of these HT-VUS were heterozygous duplications and chromosome X had the most HT-VUS. The prevalence of HT-VUS was 0.90% (28/3116) for prenatal low-risk samples, 1.18% (26/2196) for prenatal high-risk samples, 1.37% (10/728) for postnatal samples and 0.99% (11/1110) for early pregnancy loss samples. However, the incidence of HT-VUS was not statistically different between different groups. Conclusions: HT-VUS (deletions or duplications) involving introns and HT-VUS (duplications) including terminal coding exons (either the first or last exons) might be clinically neutral. Our study will be helpful for both interpretation and genetic counselling in the future.
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