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J Hum Genet. 2018 Oct;63(10):1077-1082. doi: 10.1038/s10038-018-0492-1. Epub 2018 Jul 25.

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.

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Biomedical Genomics and Oncogenetics Laboratory LR16IPT05, Institut Pasteur de Tunis, Université Tunis El Manar, Tunis, Tunisia.
Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.
Department of Pediatric Cardiology, La Rabta Hospital, Tunis, Tunisia.
Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, Marseille, France.
Venoms and Therapeutic Biomolecules Laboratory LR16IPT08, Institut Pasteur de Tunis, Tunis, Tunisia.
Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, Marseille, France.


Pediatric cardiomyopathy is a complex disease with clinical and genetic heterogeneity. Recently, the ALPK3 gene was described as a new hereditary cardiomyopathy gene underlying pediatric cardiomyopathies. Only eight patients carrying mutations in ALPK3 have 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 ALPK3 gene. In conclusion, ALPK3 should be included in the list of genes to be considered in genetic studies for patients affected with pediatric syndromic cardiomyopathy.

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