FLAGELLAR MUTANTS IN MAN - HETEROGENEITY OF THE IMMOTILE-CILIA SYNDROME

In a search for flagellar mutants in man we have examined sperm tails from men who have spermatozoa that are immotile but living. In this paper we describe 14 such cases, which belong to five distinct groups. These are: sperm axonemes lacking both dynein arms, sperm axonemes lacking the inner dynein arms, sperm axonemes lacking the outer dynein arms, sperm axonemes probably lacking the spoke heads, and sperm axonemes lacking one or both central microtubules and lacking the central sheath. Other types of flagellar defects are likely to occur, but have not been seen in this study. Men having spermatozoa of the first four of these categories have the immotile-cilia syndrome characterized by respiratory tract disease since early childhood. The three men from our fifth category did not suffer from the immotile-cilia syndrome. Their spermatozoa were characterized by the middle piece being very short and the fibrous sheath being unusually thick. © 1979 Academic Press, Inc.