Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
권호 표지
DOI QR코드

DOI QR Code

Novel recessive mutations of COL6A1 identified in the early severe phenotype of ullrich congenital muscular dystrophy

  • Park, Young-Eun (Department of Neurology, Pusan National University School of Medicine) ;
  • Shin, Jin-Hong (Department of Neurology, Pusan National University School of Medicine) ;
  • Kim, Hyang-Sook (Research Institute for Convergence of Biomedical Research and Technology, Pusan National University Yangsan Hospital) ;
  • Kim, Dae-Seong (Department of Neurology, Pusan National University School of Medicine)
  • Received : 2018.01.30
  • Accepted : 2018.06.17
  • Published : 2018.07.31
Download PDF
⟨ Previous Next ⟩

Abstract

Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in one of three genes encoding collagen VI. Although UCMD usually shows an early onset, progressive weakness, contractures and hyperlaxity of the joints, and respiratory failure, it is well known to exhibit a wide spectrum of clinical severities. The severities of the phenotypic subtypes are mainly divided according to the ambulation status. We report a patient with the early-severe phenotype of UCMD who was diagnosed by the detection of novel recessive mutations in COL6A1.

Keywords

References

  1. Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A 2001;98:7516-7521. https://doi.org/10.1073/pnas.121027598
  2. Bonnemann CG. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol 2011;7:379-390.
  3. Brinas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacene E, et al. Early onset collagen VI myopathies: genetic and clinical correlations. Ann Neurol 2010;68:511-520. https://doi.org/10.1002/ana.22087
  4. Yonekawa T, Nishino I. Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism( s). J Neurol Neurosurg Psychiatry 2015;86:280-287. https://doi.org/10.1136/jnnp-2013-307052
  5. Yonekawa T, Komaki H, Okada M, Hayashi YK, Nonaka I, Sugai K, et al. Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. J Neurol Neurosurg Psychiatry 2013;84:982-988. https://doi.org/10.1136/jnnp-2012-304710
  6. Lee JH, Shin HY, Park HJ, Kim SH, Kim SM, Choi YC. Clinical, pathologic, and genetic features of collagen vi-related myopathy in Korea. J Clin Neurol 2017;13:331-339. https://doi.org/10.3988/jcn.2017.13.4.331
  7. Butterfield RJ, Foley AR, Dastgir J, Asman S, Dunn DM, Zou Y, et al. Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. Hum Mutat 2013;34:1558-1567. https://doi.org/10.1002/humu.22429
  8. He Y, Maier K, Leppert J, Hausser I, Schwieger-Briel A, Weibel L, et al. Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility. Am J Hum Genet 2016;99:1395-1404. https://doi.org/10.1016/j.ajhg.2016.11.005