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Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele.
- Source :
-
European journal of medical genetics [Eur J Med Genet] 2021 Apr; Vol. 64 (4), pp. 104170. Date of Electronic Publication: 2021 Feb 19. - Publication Year :
- 2021
-
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.<br /> (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)
- Subjects :
- Adaptor Proteins, Signal Transducing metabolism
Adolescent
Chromosomes, Human, X genetics
Female
Heterozygote
Humans
Muscle, Skeletal metabolism
Muscle, Skeletal pathology
Myopathies, Structural, Congenital metabolism
Myopathies, Structural, Congenital pathology
Nuclear Proteins metabolism
Protein Tyrosine Phosphatases, Non-Receptor metabolism
Tumor Suppressor Proteins metabolism
Adaptor Proteins, Signal Transducing genetics
Chromosome Deletion
Myopathies, Structural, Congenital genetics
Nuclear Proteins genetics
Protein Tyrosine Phosphatases, Non-Receptor genetics
Tumor Suppressor Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1878-0849
- Volume :
- 64
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- European journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 33618039
- Full Text :
- https://doi.org/10.1016/j.ejmg.2021.104170