| Autor: |
Jaouadi, Hager, Kraoua, Lilia, Chaker, Lilia, Atkinson, Alexandre, Delague, Valérie, Levy, Nicolas, Benkhalifa, Rym, Mrad, Ridha, Abdelhak, Sonia, Zaffran, Stéphane |
| Zdroj: |
Journal of Human Genetics; October 2018, Vol. 63 Issue: 10 p1077-1082, 6p |
| Abstrakt: |
Pediatric cardiomyopathy is a complex disease with clinical and genetic heterogeneity. Recently, the ALPK3gene was described as a new hereditary cardiomyopathy gene underlying pediatric cardiomyopathies. Only eight patients carrying mutations in ALPK3have been reported to date. Here, we report a 3-year-old male patient with both hypertrophic and dilated cardiomyopathy. The patient presented dysmorphic features and skeletal deformities of hands and feet, pectus excavatum, and cleft palate. The genetic investigation was performed by whole-exome sequencing in the patient and his parents. We identified a novel homozygous mutation in ALPK3(c.1531_1532delAA; p.Lys511Argfs*12). Our work extends the phenotypic spectrum of the ALPK3-associated cardiomyopathy by reporting additional clinical features. This is the first study of a Tunisian patient with mutation in the ALPK3gene. In conclusion, ALPK3should be included in the list of genes to be considered in genetic studies for patients affected with pediatric syndromic cardiomyopathy. |
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