ty -jour t1-与原发性睫状运动障碍的成人队列中的不育症：表型– gene Association JF-欧洲呼吸杂志Jan Au -Bassinet，Laurence au -Boon，Mieke au -Mani，Rahma au -Honoré，Isabelle au -Papon，Jean -Francois au -Cuppens，Harry au -Jaspers，Martine au -Martine au- lorent au- lorent，lorent，natalie au -coste andandré -costeandréau -andréau -andréau-和Escudier，Estelle au -Amselem，Serge au -Maitre，Bernard au -Legendre，Marie au -Christin -Maitre，Sophie Y1-2017/11/11/01 UR -http：//www.qdcxjkg.com/content.com/content/50/5/5/1700314.AbstractN2-原发性睫状运动障碍（PCD）是一种罕见的常染色体隐性膜疾病（患病率1:10 000至1:40 000出生），其特征是粘膜循环障碍，由于异常的肌动纤维睫状功能[1,2]。已经描述了五个主要的超微结构PCD表型。大多数是由于缺乏动力蛋白臂（DAS）而导致的：无外部和内部DAS（2DA），单独的DAS（ODA）或内部DAS，具有微管混乱（IDA/MTD）；或产生异常中央复合物（CC）的缺陷。一些具有遗传确认的PCD的患者在电子显微镜（NEM）上显然具有正常的睫状结构。与辅助内部细胞骨架有关的编码参与轴突结构或组装的蛋白质的30多个基因与PCD有关[3]；他们的分析能够鉴定50-75％的患者中致病性致病突变。 Approximately half of PCD cases are associated with situs inversus, thereby defining Kartagener's syndrome. Moreover, because motile cilia and sperm flagella share common axonemal structures, most PCD-affected males are thought to be infertile [4]. According to the literature, male infertility is caused by severe or total asthenozoospermia and is currently treated by recourse to in vitro fertilisation or intracytoplasmic sperm injection [5, 6]. However, spontaneous fatherhood of PCD patients has been reported.Infertility, observed in 75% of male and 61% of female PCD patients, is dependent on ultrastructural and gene defects http://ow.ly/P4K030fPnPpWe thank all the individuals and their families for their cooperation, as well as all the referring physicians. The researchers participate in the network of COST Action BEAT-PCD (Better Evidence to Advance Therapeutic Options for PCD; no. BM 1407). L. Bassinet, I. Honoré, J.-.F Papon, A. Coste, E. Escudier, S. Amselem, B. Maitre, M. Legendre and S. Christin-Maitre are members of the RadiCONetwork (Inserm, France). ER -