Novel mutations of the Alström syndrome 1 gene in an infant with dilated cardiomyopathy: A case report

Figure 1 Electrocardiography and imaging examinations of the patient. A: Abnormal 12-lead electrocardiography indicated high voltages in the left precordial leads and diffuse T wave inversion; B: Chest radiography demonstrated cardiac enlargement and pulmonary congestion; C: Dilated left ventricle approximately 43 mm in late diastole and reduced ejection fraction approximately 26% (echocardiography at admission); D: Dilated left ventricle approximately 46 mm in late diastole, reduced ejection fraction approximately 27% (echocardiography at a follow-up of 6 mo).

Figure 2 Sanger sequencing at the position of c. 12160C>G, p.R4054G on the Alström syndrome 1 gene. The proband carried a homozygotic mutation of c.12160C>G, p.R4054G in exon 20 inherited from her father, while her mother had normal sequence in exon 20 on one chromosome and a deletion of exons 18-21 on the other chromosome.