A Rare Case of Severe Congenital RYR1-Associated Myopathy
Congenital myopathies are a group of rare inherited diseases, defined by hypotonia and muscle weakness. We report clinical and genetic characteristics of a male preterm newborn, whose phenotype was characterized by severe hypotonia and hyporeactivity, serious respiratory distress syndrome that requi...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2018/6184185 |
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| author | Nicola Laforgia Manuela Capozza Lucrezia De Cosmo Antonio Di Mauro Maria Elisabetta Baldassarre Francesca Mercadante Anna Laura Torella Vincenzo Nigro Nicoletta Resta |
| author_facet | Nicola Laforgia Manuela Capozza Lucrezia De Cosmo Antonio Di Mauro Maria Elisabetta Baldassarre Francesca Mercadante Anna Laura Torella Vincenzo Nigro Nicoletta Resta |
| author_sort | Nicola Laforgia |
| collection | DOAJ |
| description | Congenital myopathies are a group of rare inherited diseases, defined by hypotonia and muscle weakness. We report clinical and genetic characteristics of a male preterm newborn, whose phenotype was characterized by severe hypotonia and hyporeactivity, serious respiratory distress syndrome that required mechanical ventilation, clubfoot, and other dysmorphic features. The diagnostic procedure was completed with the complete exome sequencing of the proband and of his parents and his sister, which showed new mutations in the ryanodine receptor gene (RYR1), which maps to chromosome 19q13.2 and encodes the skeletal muscle isoform of a calcium-release channel in the sarcoplasmic reticulum (RyR1). This report confirms that early diagnosis and accurate study of genomic disorders are very important, enabling proper genetic counselling of the reproductive risk, as well as disease prognosis and patient management. |
| format | Article |
| id | doaj-art-b11466e850824b1dad55af73773c458f |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-b11466e850824b1dad55af73773c458f2025-02-03T01:21:20ZengWileyCase Reports in Genetics2090-65442090-65522018-01-01201810.1155/2018/61841856184185A Rare Case of Severe Congenital RYR1-Associated MyopathyNicola Laforgia0Manuela Capozza1Lucrezia De Cosmo2Antonio Di Mauro3Maria Elisabetta Baldassarre4Francesca Mercadante5Anna Laura Torella6Vincenzo Nigro7Nicoletta Resta8Neonatology and Neonatal Intensive Care Unit, Department of Biomedical Science and Human Oncology, “Aldo Moro” University of Bari, Policlinico Hospital, Piazza Giulio Cesare n. 11, 70124 Bari, ItalyNeonatology and Neonatal Intensive Care Unit, Department of Biomedical Science and Human Oncology, “Aldo Moro” University of Bari, Policlinico Hospital, Piazza Giulio Cesare n. 11, 70124 Bari, ItalyNeonatology and Neonatal Intensive Care Unit, Department of Biomedical Science and Human Oncology, “Aldo Moro” University of Bari, Policlinico Hospital, Piazza Giulio Cesare n. 11, 70124 Bari, ItalyNeonatology and Neonatal Intensive Care Unit, Department of Biomedical Science and Human Oncology, “Aldo Moro” University of Bari, Policlinico Hospital, Piazza Giulio Cesare n. 11, 70124 Bari, ItalyNeonatology and Neonatal Intensive Care Unit, Department of Biomedical Science and Human Oncology, “Aldo Moro” University of Bari, Policlinico Hospital, Piazza Giulio Cesare n. 11, 70124 Bari, ItalyMedical Genetics Unit, Department of Biomedical Sciences and Human Oncology, “Aldo Moro” University of Bari, Policlinico Hospital, Piazza Giulio Cesare n. 11, 70124 Bari, ItalyMedical Genetics Laboratory, Department of Precision Medicine, “L.Vanvitelli” University of Campania, Telethon Institute of Genetics and Medicine (TIGEM), Naples, ItalyMedical Genetics Laboratory, Department of Precision Medicine, “L.Vanvitelli” University of Campania, Telethon Institute of Genetics and Medicine (TIGEM), Naples, ItalyMedical Genetics Unit, Department of Biomedical Sciences and Human Oncology, “Aldo Moro” University of Bari, Policlinico Hospital, Piazza Giulio Cesare n. 11, 70124 Bari, ItalyCongenital myopathies are a group of rare inherited diseases, defined by hypotonia and muscle weakness. We report clinical and genetic characteristics of a male preterm newborn, whose phenotype was characterized by severe hypotonia and hyporeactivity, serious respiratory distress syndrome that required mechanical ventilation, clubfoot, and other dysmorphic features. The diagnostic procedure was completed with the complete exome sequencing of the proband and of his parents and his sister, which showed new mutations in the ryanodine receptor gene (RYR1), which maps to chromosome 19q13.2 and encodes the skeletal muscle isoform of a calcium-release channel in the sarcoplasmic reticulum (RyR1). This report confirms that early diagnosis and accurate study of genomic disorders are very important, enabling proper genetic counselling of the reproductive risk, as well as disease prognosis and patient management.http://dx.doi.org/10.1155/2018/6184185 |
| spellingShingle | Nicola Laforgia Manuela Capozza Lucrezia De Cosmo Antonio Di Mauro Maria Elisabetta Baldassarre Francesca Mercadante Anna Laura Torella Vincenzo Nigro Nicoletta Resta A Rare Case of Severe Congenital RYR1-Associated Myopathy Case Reports in Genetics |
| title | A Rare Case of Severe Congenital RYR1-Associated Myopathy |
| title_full | A Rare Case of Severe Congenital RYR1-Associated Myopathy |
| title_fullStr | A Rare Case of Severe Congenital RYR1-Associated Myopathy |
| title_full_unstemmed | A Rare Case of Severe Congenital RYR1-Associated Myopathy |
| title_short | A Rare Case of Severe Congenital RYR1-Associated Myopathy |
| title_sort | rare case of severe congenital ryr1 associated myopathy |
| url | http://dx.doi.org/10.1155/2018/6184185 |
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