Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress
AbstractWe highlight the importance of exome sequencing in solving a clinical case of a child who died at 14 months after a series of respiratory crises. He was the half-brother of a girl diagnosed at 7 years with the early-onset seizure variant of Rett syndrome due to CDKL5 mutation. We performed a test for CDKL5 in the boy, which came back negative. Driven by the mother’s compelling need for a diagnosis, we moved forward performing whole exome sequencing analysis. Surprisingly, two missense mutations in compound heterozygosity were identified in the RAPSN gene encoding a receptor-associated protein with a key role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites. This gene is responsible for a congenital form of myasthenic syndrome, a disease potentially treatable with cholinesterase inhibitors. Therefore, an earlier diagnosis in this boy would have led to a better clinical management and prognosis. Our study supports the key role of exome sequencing in achieving a definite diagnosis in severe perinatal diseases, an essential step especially when a specific therapy is available. View Full-Text
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Imperatore, V.; Mencarelli, M.A.; Fallerini, C.; Bianciardi, L.; Ariani, F.; Furini, S.; Renieri, A.; Mari, F.; Frullanti, E. Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress. Int. J. Mol. Sci. 2016, 17, 306.
Imperatore V, Mencarelli MA, Fallerini C, Bianciardi L, Ariani F, Furini S, Renieri A, Mari F, Frullanti E. Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress. International Journal of Molecular Sciences. 2016; 17(3):306.Chicago/Turabian Style
Imperatore, Valentina; Mencarelli, Maria A.; Fallerini, Chiara; Bianciardi, Laura; Ariani, Francesca; Furini, Simone; Renieri, Alessandra; Mari, Francesca; Frullanti, Elisa. 2016. "Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress." Int. J. Mol. Sci. 17, no. 3: 306.
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