Mutations in CFAP47, a previously reported MMAF causative gene, also contribute to the respiratory defects in patients with PCD

ConclusionsWe describe two hemizygous missense variants of X-linkedCFAP47 in two unrelated PCD individuals and proveCFAP47 variants are related to a reduced number of epithelial ciliary cells. Therefore, we suggest thatCFAP47 should be known as a novel pathogenic gene of human PCD.

Source: Molecular Genetics & Genomic Medicine - September 19, 2023 Category: Genetics & Stem Cells Authors: Haijun Ge, Wangji Zhou, Miao He, Haixia Zheng, Xinyue Zhao, Ting Zhang, Ying Zhang, Chi Shao, Chongsheng Cheng, Yaping Liu, Xinlun Tian, Kai ‐Feng Xu, Xue Zhang Tags: ORIGINAL ARTICLE Source Type: research