Case Report: A rare stop-gained MYZAP mutation is associated with atrioventricular septal defects in an Arabian family

Figures

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  Figure 1. Echocardiography of the patients. (A) Echocardiography with the apical 4-chamber view of the first patient was done during the last follow-up, showing a dilated coronary sinus due to persistent left SVC (yellow arrow). (B) An apical 4-chamber view with color flow Doppler of the first patient was performed at the last follow-up and showed mild TR (white arrow) and mild MR (yellow arrow). (C) Preoperative modified parasternal short-axis view of the second patient showing a large cleft in the anterior mitral leaflet with severe MR (white arrow). (D) Preoperative apical 4-chamber view of the second patient with color flow Doppler showing MR jet passing through the body of the anterior mitral leaflet (arrowhead). (E) An apical 4-chamber view of the second patient after the mechanical mitral valve prosthesis, showing laminar blood flow across the mitral inflow. (F) Preoperative apical four-chamber view in 2D (left) and color flow Doppler (right) of the father showing ASD primum with a cleft in the anterior mitral leaflet causing mild to moderate MR (white arrow). ASD, atrial septal defect; LA, left atrium; LV, left ventricle; MV, mitral valve; MR, mitral regurgitation; RA, right…

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  Figure 2. Affected family pedigree and Sanger sequencing chromatograms for MYZAP exon 3 mutation. (A) The family member's pedigree represents the available samples for this study. (B) Representative electropherogram of the MYZAP gene. Sanger sequencing results showing that two affected twins, II-1 and II-2, were T/T on both alleles, while the father I-1 was heterozygous (C/T), and the mother I-2 was C/C at the same position of the MYZAP gene.

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  Figure 3. Multi-species protein sequence alignment for MYZAP with the p.Arg77Ter mutation. Protein alignment showed highly conserved amino acids between different species. The conserved p.Arg77Ter amino acid in MYZAP is highlighted across all species.