MYLK and Marfan syndrome: In addition, likely pathogenic variants were identified in FBN1 (N = 1 patient), FLNA (N = 1 patient) and MYLK (N = 1 patient) causing classic genetic disorders such as Marfan syndrome (FBN1; autosomal dominant), Melnick-Needles syndrome (FLNA; X-linked dominant) and familial thoracic aortic aneurysm (MYLK; autosomal dominant); all patients had significant health concerns consistent with these disorders.