Mutation screening was performed after amplification of the entire coding sequence of the ACTG2 gene using patients’ DNA and a 3500XL Genetic Analyzer (ThermoFisher Scientific, Waltham, USA). Patient CIPO1 harbours a heterozygous missense variant (c.588G >C or p. Glu196Asp) that was not reported in the literature. Analysis of this variant deleteriousness with the Combined Annotation‐Dependent Depletion (CADD) online tool to predict the functional effects of human missense variants gave a score of 23.7. 34 This analysis suggested that this variant is a putative damaging variant in a highly conserved region in the vertebrate orthologous and paralogous isoforms. Moreover, it was not reported in the Exome Sequence Variant database ( or the Exome Aggregation Consortium (ExAC) database. This variant was reported once in the ClinVar database as probably pathogenic and was classified as probably pathogenic according to the American College of Medical Genetics and Genomic and the Association for Molecular Pathology (ACMG‐AMP) guidelines. 35

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