Sturgess J M, Thompson M W, Czegledy-Nagy E, Turner J A
Am J Med Genet. 1986 Sep;25(1):149-60. doi: 10.1002/ajmg.1320250117.
The genetics of the immotile cilia syndrome has been analyzed in a series of 46 affected individuals from 38 families. Both sexes were equally affected: there were 20 males and 26 females in this series. All patients had upper and lower respiratory disease with chronic sinusitis, otitis, and chronic cough from early childhood. Bronchiectasis was common in older children and adults. Situs inversus occurred randomly, affecting 11 males and 15 females. Biopsies of nasal and bronchial mucosa from these subjects have been investigated by electron microscopy and identified as having specific ultrastructural defects of respiratory tract cilia including deficiencies in outer dynein arms (19), inner dynein arms (3), both inner and outer dynein arms (15), radial spoke defect (5); and microtubular transposition anomaly (4). Segregation analysis of proband sibships was consistent with autosomal recessive inheritance. However, the different ultrastructural defects that underly the immotile cilia syndrome involve presumably different genetic determinants, and the different types have not been analyzed separately. Examination of paternal age and birth order gave no evidence of new autosomal dominant mutation in the series.
对来自38个家庭的46名不动纤毛综合征患者进行了遗传学分析。男女受影响程度相同：该系列中有20名男性和26名女性。所有患者自幼均患有上、下呼吸道疾病，伴有慢性鼻窦炎、中耳炎和慢性咳嗽。支气管扩张在大龄儿童和成人中很常见。内脏反位随机发生，影响11名男性和15名女性。对这些受试者的鼻和支气管黏膜活检组织进行了电子显微镜检查，发现具有呼吸道纤毛的特定超微结构缺陷，包括外动力蛋白臂缺陷（19例）、内动力蛋白臂缺陷（3例）、内外动力蛋白臂均有缺陷（15例）、放射辐条缺陷（5例）以及微管转位异常（4例）。先证者同胞关系的分离分析符合常染色体隐性遗传。然而，导致不动纤毛综合征的不同超微结构缺陷可能涉及不同的遗传决定因素，且尚未对不同类型进行单独分析。对父亲年龄和出生顺序的检查未发现该系列中有新的常染色体显性突变的证据。
