Perles et al. (2012) reported 2 brothers, born of consanguineous Arab-Muslim parents, with variable manifestations of visceral heterotaxy. The younger brother, aged 14 years, presented with congenital heart disease and severe cyanosis. Echocardiography showed a complex cardiovascular defect ... Perles et al. (2012) reported 2 brothers, born of consanguineous Arab-Muslim parents, with variable manifestations of visceral heterotaxy. The younger brother, aged 14 years, presented with congenital heart disease and severe cyanosis. Echocardiography showed a complex cardiovascular defect and abdominal situs abnormalities. He died after corrective surgery. Radiographs showed midline liver and inverted stomach and spleen. His heart malformation included dextrocardia, a complete unbalanced atrioventricular canal defect with single atrium and common atrioventricular valve, hypoplastic left ventricle with bulboventricular foramen, double outlet right ventricle with transposition of the great arteries, severe pulmonary stenosis, right aortic arch, abnormal systemic venous return, and total anomalous pulmonary venous drainage. In contrast, his 17-year-old, apparently healthy brother was found to have situs inversus totalis with normal cardiac anatomy and function. He had no respiratory symptoms, and sperm count, structure, and motility were normal. Light microscopy examination of a nasal sample showed beating ciliated cells, and electron microscopy showed normal ciliary ultrastructure with typical 9:2 doublet microtubules, excluding a ciliary defect.
By homozygosity mapping followed by candidate gene analysis of 2 brothers with heterotaxy-6, Perles et al. (2012) identified a homozygous splice site mutation in the CCDC11 gene (614759.0001).