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Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele. | LitMetric

AI Article Synopsis

  • - X-linked myotubular myopathy (XLMTM) is a rare genetic muscle disorder primarily affecting males, but some heterozygous females can also show symptoms; this text discusses the case of a female patient suspected to have this condition.
  • - A genetic analysis revealed a large deletion on the X chromosome involving important genes, and additional tests confirmed that the patient's muscle showed only 20% of the expected gene expression for MTM1, which is critical for muscle function.
  • - The study found that while the patient had significantly reduced levels of the myotubularin protein, there was increased expression of another protein called BIN1, suggesting that this might be a compensatory mechanism to help maintain muscle function despite

Article Abstract

X-linked myotubular myopathy (XLMTM; OMIM 310400) is a centronuclear congenital muscular disorder of X-linked recessive inheritance. Although female carriers are typically asymptomatic, affected heterozygous females have been described. Here, we describe the case of a sporadic female patient with suspicion of centronuclear myopathy and a heterozygous large deletion at Xq28 encompassing the MAMLD1, MTM1, MTMR1, CD99L2, and HMGB3 genes. The deletion was first detected using a custom next generation sequencing (NGS)-based multigene panel and finally characterized by comparative genomic hybridization array and multiplex ligation probe assay techniques. In this patient we have confirmed, by MTM1 mRNA quantification, a MTM1 gene expression less than the expected 50 percent in patient muscle. The significant 20% reduction in MTM1 mRNA expression in muscle, precludes low level of the normal myotubularin protein as the cause of the phenotype in this heterozygous female. We have also found that BIN1 expression in patient muscle biopsy was significantly increased, and postulate that BIN1 expression will be increased in XLMTM patient muscle as an attempt to maintain muscle function.

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Source
http://dx.doi.org/10.1016/j.ejmg.2021.104170DOI Listing

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