De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

Neuromuscular Disorders : NMD
Sander PajusaluTiia Reimand

Abstract

Here we report on a case of MYH7-related myopathy in a boy with early onset of muscular weakness and delayed motor development in infancy. His most affected muscles were neck extensors showing a dropped head sign, proximal muscles of lower limbs with positive Gower's sign, and trunk muscles. Brain and spinal cord MRI scans, echocardiography, and laboratory analyses including creatine kinase and lactate did not reveal any abnormalities. Muscle histopathology showed fiber-type disproportion. Whole exome sequencing of the parents-offspring trio revealed a novel de novo c.5655G>A p.(Ala1885=) synonymous substitution of the last nucleotide in exon 38 of the MYH7 gene. Further RNA investigations proved the skipping of exon 38 (p.1854_1885del). This is a first report of an exon-skipping mutation in the MYH7 gene causing myopathy. This report broadens both the phenotypic and genotypic spectra of MYH7-related myopathies.

References

Oct 2, 2003·Annals of Neurology·Homa TajsharghiAnders Oldfors
Feb 4, 2011·Neuromuscular Disorders : NMD·Saida OrtolanoMaría-Jesús Sobrido
Jul 14, 2011·European Journal of Heart Failure·Stephan WaldmüllerUNKNOWN German Competence Network Heart Failure
Dec 17, 2011·Seminars in Pediatric Neurology·Nigel F Clarke
Aug 25, 2012·Acta Neuropathologica·Homa Tajsharghi, Anders Oldfors
Apr 1, 2014·Nature Methods·Jana Marie SchwarzDominik Seelow

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Citations

Jul 9, 2016·Orphanet Journal of Rare Diseases·C FiorilloUNKNOWN Italian Network on Congenital Myopathies
Dec 24, 2016·Neuropathology and Applied Neurobiology·M SchuelkeA Oldfors

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