DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient.
Cheng LeiDanhui YangRongchun WangShuizi DingLin WangTing GuoHong LuoPublished in: Journal of human genetics (2021)
This report is the first to describe a novel DRC1 variant in a patient with PCD and MMAF, and in vitro fertilization was effective for treating infertility in this male patient. Our findings expand the genetic spectrum of PCD and MMAF, and provide a detailed clinical summary and functional analysis of patients with DRC1 variants.