The index family is striking because of not only the number of affected individuals but also the large number of miscarriages (Fig. 1). Consequently, we exhaustively evaluated the sequencing data for the linkage interval in the mother and father and performed high-resolution analysis of copy-number variations in both, in search of compound heterozygote mutations that could provide an alternative explanation for the cosegregation of one paternal haplotype among all live births. Apart from W317X in the father, we found neither a rare, putatively functional sequence variation nor any identifiable structural variation in the linkage interval in either parent.
