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

Przemko Kwinta,Tomasz Tomasik,Katarzyna Starzec,Weronika Nedza,Aleksandra Dudzik,Wojciech Durlak,Katarzyna Końska,Andrzej Grudzień,Mateusz Jagła

doi:10.1186/s43042-021-00140-5

Przemko Kwinta, Tomasz Tomasik + Show 7 more

Open Access

https://doi.org/10.1186/s43042-021-00140-5

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Abstract

BackgroundThe X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder.Case presentationThis 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.ConclusionThe 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.

Highlights

The X-linked myotubular myopathy (XLMTM) is a rare congenital disease
We report on a male patient from Neonatal Intensive Care Unit that presented with typical symptoms of a congenital myopathy and after a thorough diagnostic process was proven to bear a c.197C>G, Dudzik et al Egyptian Journal of Medical Human Genetics (2021) 22:19 p.(Thr66Arg) MTM1 mutation, described as a variant of uncertain significance (VUS)
Case presentation A male neonate in his first day of life was admitted to the Neonatal Intensive Care Unit (NICU) because of the respiratory failure, significant diffuse muscle weakness, and hypotonia (Fig. 1)

Summary

Conclusion

We report a case of a male infant with a mutation of MTM1 gene and centronuclear myopathy phenotype. The genetic variant is described as one of uncertain significance, the spectrum of symptoms and the distribution of mutation among patient’s relatives let us suspect that it may be with high probability pathogenic. In this way, we hope that our finding could contribute to the diagnostic process of subsequent patients

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