Fig 1.
Pedigree of a Chinese heterotaxy family, chest X-ray of the heterotaxy patient and the DNAH11 Sanger sequencing electropherograms.
(A) Pedigree of a Chinese heterotaxy family. N, normal; V1, the DNAH11 c.3426-1G>A variant; V2, the DNAH11 c.4306C>T variant. The slash indicates deceased individual, the fully shaded symbol indicates the affected individual, and the arrow indicates the proband. (B) Chest X-ray of the family member (II:2) revealed dextrocardia. (C, D) The compound heterozygosity for the DNAH11 variants, c.3426-1G>A and c.4306C>T, in the individual (II:2) with heterotaxy.
Fig 2.
Structural modeling displayed conformational changes of the DNAH11 p.(Arg1436Trp) variant.
(A) The cartoon representation of the DNAH11 protein. (B) The stick model of the arginine at residue 1436 (p.Arg1436). (C) The stick model of the mutant tryptophan at residue 1436 (p.Trp1436).
Table 1.
Clinical phenotypes of individuals with DNAH11 compound heterozygous variants.