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Int. J. Mol. Sci. 2016, 17(3), 306;

Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

Medical Genetics, University of Siena, Policlinico Le Scotte, Viale Bracci 2, 53100 Siena, Italy
Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy
Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy
Authors to whom correspondence should be addressed.
Academic Editor: William Chi-shing Cho
Received: 11 February 2016 / Revised: 19 February 2016 / Accepted: 23 February 2016 / Published: 27 February 2016
(This article belongs to the Special Issue Next-Generation Sequencing for Clinical Application)
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We 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
Keywords: exome sequencing; myasthenia; perinatal death; complex disorder exome sequencing; myasthenia; perinatal death; complex disorder

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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.

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