For exome resequencing, we selected four individuals of self-reported European ancestry with Miller syndrome from three unrelated families. In one family, two siblings were affected (i.e., kindred 1 in Table 1), and in two families a single individual had been diagnosed with Miller syndrome (i.e., kindreds 2 and 3 in Table 1). For validation, we selected samples from four individuals in three additional families including a family with two affected siblings and two simplex cases. All participants provided written consent and the Institutional Review Boards of Seattle Children’s Hospital and the University of Washington approved all studies.
