ALG9-CDG is one of the less frequently reported types of CDG. Here, we summarize the features of six patients with ALG9-CDG reported in the literature and report the features of four additional patients. The patients presented with drug-resistant infantile epilepsy, hypotonia, dysmorphic features, failure to thrive, global developmental disability, and skeletal dysplasia. One patient presented with nonimmune hydrops fetalis. A brain MRI revealed global atrophy with delayed myelination. Exome sequencing identified a novel homozygous mutation c.1075G>A, p.E359K of the ALG9 gene. The results of our analysis of these patients expand the knowledge of ALG9-CDG phenotype.
CITATION STYLE
AlSubhi, S., AlHashem, A., AlAzami, A., Tlili, K., AlShahwan, S., Lefeber, D., … Tabarki, B. (2016). Further delineation of the ALG9-CDG phenotype. In JIMD Reports (Vol. 27, pp. 107–112). Springer. https://doi.org/10.1007/8904_2015_504
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