A novel mutation in MTM1 gene in newborn, resulting in centronuclear myopathy phenotype: a case report

• Published in: Egyptian Journal of Medical Human Genetics 2021-03, Vol.22 (1), p.19-6
• Main Authors: Dudzik, Aleksandra, Nedza, Weronika, Konska, Katarzyna, Starzec, Katarzyna, Tomasik, Tomasz, Grudzien, Andrzej, Jagla, Mateusz
• Format: Article
• Language: English
• Subjects: Case reports; Centronuclear myopathy; Feeding disorder; Genes; Genetic aspects; Genetic disorders; Genetic screening; Hypotonia; Infants (Newborn); MTM1 gene; Mutation; Myopathy; Neonatal intensive care; Neonates; Phenotypes; Respiratory failure; X-linked myotubular myopathy
• ISSN: 1110-8630; 2090-2441
• DOI: 10.1186/s43042-021-00140-5

Background The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder. Case presentation This study reports on a male patient from Neonatal Intensive Care Unit, who presented symptoms of congenital myopathy. After eliminating many other possible causes, he was eventually proven to bear a c.197C>G, p.(Thr66Arg) MTM1 mutation, a variant of uncertain significance, never described in the literature before. Family of the patient underwent the same genetic tests that proved the mother to be the carrier of mutation. Conclusion The article is a first report on abovementioned, newly discovered mutation in MTM1 gene, with high probability leading to the centronuclear myopathy phenotype. It also summarizes the diagnostic process and current state of knowledge about the therapy and prognosis for children with XLMTM. The authors hope that the findings will contribute to the diagnostic process of subsequent patients.