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

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 o...

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Bibliographic Details
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
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Summary: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.
ISSN:1110-8630
2090-2441
DOI:10.1186/s43042-021-00140-5