Minigene assay as an effective molecular diagnostic strategy in determining the pathogenicity of non-canonical splice-site variants in FLCN

Primary spontaneous pneumothorax (PSP) or pulmonary cyst is one of the manifestations of Birt-Hogg-Dube syndrome, which is caused by pathogenic variants in FLCN gene. Genetic testing in PSP patients identifies a certain number of missense or intronic variants. These variants are usually considered as variants of uncertain significance (VUS) whose functional interpretations pose a challenge in clinical genetics. To improve recognition of pathogenic splice-altering variants in FLCN gene, computational tools are used to prioritize potential splice-altering variants and then a hybrid minigene assay is performed to verify the RNA splicing pattern.

Source: Journal of Molecular Diagnostics - November 18, 2022 Category: Pathology Authors: Xinxin Zhang, Minghui Cai, Yuanchun Ma, Jie Chen, Shaoping Huang, Mengru Cai, Yibing Ding, Dehua Ma, Qian Gao, Xiaowen Hu, Chengchu Zhu, Long Yi Tags: Regular Article Source Type: research