Article
The identification of a novel CCNQ gene tail extension variant contributing to syndactyly, telecanthus and anogenital and renal malformations syndrome.
Clinical genetics - 1 Feb 2023
Che Ruochen, Wang Chunli, Huang Songming, Zheng Bixia, Li Huixia, Cheng Xueqin, Zhao Fei, Ding Guixia, Jia Zhanjun, Zhang Aihua
Abstract excerpt
The "toe syndactyly, telecanthus and anogenital and renal malformations" (STAR) syndrome is a rare X-linked dominant inherited kidney ciliopathy caused by CCNQ gene mutations. Here, we investigated the genotype and phenotype in the first two twin sisters with a novel tail extension CCNQ variant in Asia. Genetic variants of the pedigree were screened using whole-exome sequence analysis and validated by direct...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.