Abstract
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.
Competing interests: None declared
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Communicated by: Eva Morava, MD PhD
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Synopsis
The ALG9-CDG phenotype commonly includes skeletal dysplasia and may present with hydrops fetalis. A review of the literature suggests genotype-phenotype correlation.
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Sarah AlSubhi, Amal Hashem, Kalthoum Tlili, Saad AlShahwan, Dirk Lefeber, Fowzan S. Alkuraya, and Brahim Tabarki declare that they have no conflict of interest.
Details of the Contributions of Individual Authors
All authors (Sarah AlSubhi, Amal Hashem, Kalthoum Tlili, Saad AlShahwan, Dirk Lefeber, Fowzan S. Alkuraya, Brahim Tabarki) contributed equally in the planning, conducting, and reporting of the work described in the article.
Name of one author who serves as guarantor for the article, accepts full responsibility for the work and/or the conduct of the study, had access to the data, and controlled the decision to publish: Brahim Tabarki
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki.
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AlSubhi, S. et al. (2015). Further Delineation of the ALG9-CDG Phenotype. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 27. JIMD Reports, vol 27. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_504
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DOI: https://doi.org/10.1007/8904_2015_504
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