Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 62, Issue 7, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.ejmg.2019.05.001
Keywords
Limb-girdle muscular dystrophy (LGMD); Transportin 3 (TNPO3); Exome sequencing
Categories
Funding
- Genome Canada
- Canadian Institutes of Health Research
- Ontario Genomics Institute
- Genome Quebec
- Children's Hospital of Eastern Ontario Foundation
- Hungarian Science Foundation, Hungary [NKFIH 119540]
- University of Pecs, Medical School, Pecs, Hungary [AOK-KA/2018-10]
- Ontario Research Fund
- [GINOP-2.3.2-15-2016-00039]
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Limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous muscular diseases that predominantly affect the proximal muscles. Pathogenic variants in TNPO3 have been associated with a rare, autosomal dominant limb-girdle muscular dystrophy 1F (LGMD1F) in a large Italian-Spanish family and an isolated LGMD1F case. Here we present two individuals from a Hungarian family with an early-onset, slowly progressive muscular dystrophy. Both the female proband and her affected son had delayed early motor milestones including first walking at 14 months and 18 months, respectively. Both present with progressive weakness of facial, bulbar, axial, and distal muscles especially of the lower extremities. Electromyography indicated myogenic damage and muscle biopsy from the proband showed myopathic alterations with sarcoplasmic masses and signs of mitochondrial dysfunction. Exome sequencing of the female proband identified a novel c.2767delC p.(Arg923AspfsTer17) variant in TNPO3. Sanger sequencing confirmed the presence of the TNPO3 variant in the affected son; the unaffected son did not have the variant. The identification of the c.2767delC variant further supports the clinical significance of TNPO3 and expands the clinical spectrum of TNPO3-associated LGMD1F.
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