case_images: PMC10821800_01
case_images: Difficulty in climbing stairs. At the age of five years, the boy walks up the stairs with support, placing two feet on each stair. There is also a wide-based gait (his feet are spaced widely apart).
case_images: CRIG2024-8860889.001.jpg
case_images: PMC10821800_01_CRIG2024-8860889.001.jpg
case_images: fig1
case_images: He also had mild ataxia (there was a wide-based gait with recurrent falls and especially difficulty in climbing stairs) (Figure 1).
case_images: (a) Echocardiography from apical 4-chamber view: dilated left ventricle with global shape. (b) Subcostal view: noncompaction features at the apex. LV: left ventricle and RV: right ventricle.
case_images: CRIG2024-8860889.002.jpg
case_images: PMC10821800_01_CRIG2024-8860889.002.jpg
case_images: fig2
case_images: In addition, an echocardiogram revealed an enlarged left ventricle with global shape and preserved systolic and diastolic function (ejection fraction: 55-58%) (Figure 2(a)). Since then, repeated echocardiograms revealed normal left ventricular systolic function, with mild evidence of noncompaction features at the apex (Figure 2(b)).
case_images: Sanger sequencing (from the patient and parental samples): (a) the homozygous insertion of a single base (T) at codon 21 in exon 3 of the DNAJC19 gene, c.62dup (p.Tyr21Ter) in the patient's sample (arrow); (b) the heterozygous insertion of a single base (T) at codon 21 in exon 3 of the DNAJC19 gene, c.62dup (p.Tyr21Ter) in the maternal sample (arrow); (c) the heterozygous insertion of a single base (T) at codon 21 in exon 3 of the DNAJC19 gene, c.62dup (p.Tyr21Ter) in the paternal sample (arrow).
case_images: CRIG2024-8860889.003.jpg
case_images: PMC10821800_01_CRIG2024-8860889.003.jpg
case_images: fig3
case_images: The presence of the specific variant was confirmed by Sanger sequencing (Figure 3(a)). Both parents were also checked (with the Sanger method), and they were found to have the same heterozygous p.Tyr21Ter variant (Figures 3(b) and 3(c)).