Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

F.J.D. Smith; R.A.J. Eady; I.M. Leigh; J.R. McMillan; E.L. Rugg; D.P. Kelsell; S.P. Bryant; N.K. Spurr; J.F. Geddes; G. Kirtschig; G. Milana; A.G. De Bono; K. Owaribe; G. Wiche; L. Pulkkinen; J. Uitto; W.H.I. McLean; E.B. Lane

doi:10.1038/ng0896-450

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

F.J.D. Smith, R.A.J. Eady, I.M. Leigh, J.R. McMillan, E.L. Rugg, D.P. Kelsell, S.P. Bryant, N.K. Spurr, J.F. Geddes, G. Kirtschig, G. Milana, A.G. De Bono, K. Owaribe, G. Wiche, L. Pulkkinen, J. Uitto, W.H.I. McLean, E.B. Lane

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Abstract

We report that mutation in the gene for plectin, a cytoskeleton-membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex). The evidence comes from absence of plectin by antibody staining in affected individuals from four families, supportive genetic analysis (localization of the human plectin gene to chromosome 8q24.13-qter and evidence for disease segregation with markers in this region) and finally the identification of a homozygous frameshift mutation detected in plectin cDNA. Absence of the large multifunctional cytoskeleton protein plectin can simultaneously account for structural failure in both muscle and skin.

Original language	English
Pages (from-to)	450-457
Number of pages	8
Journal	Nature Genetics
Volume	13
Issue number	4
DOIs	https://doi.org/10.1038/ng0896-450
Publication status	Published - 1996

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Smith, F. J. D., Eady, R. A. J., Leigh, I. M., McMillan, J. R., Rugg, E. L., Kelsell, D. P., Bryant, S. P., Spurr, N. K., Geddes, J. F., Kirtschig, G., Milana, G., De Bono, A. G., Owaribe, K., Wiche, G., Pulkkinen, L., Uitto, J., McLean, W. H. I., & Lane, E. B. (1996). Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nature Genetics, 13(4), 450-457. https://doi.org/10.1038/ng0896-450

@article{aaa3b1cb8a0d40448ad8f7930ff1fa2b,

title = "Plectin deficiency results in muscular dystrophy with epidermolysis bullosa",

abstract = "We report that mutation in the gene for plectin, a cytoskeleton-membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex). The evidence comes from absence of plectin by antibody staining in affected individuals from four families, supportive genetic analysis (localization of the human plectin gene to chromosome 8q24.13-qter and evidence for disease segregation with markers in this region) and finally the identification of a homozygous frameshift mutation detected in plectin cDNA. Absence of the large multifunctional cytoskeleton protein plectin can simultaneously account for structural failure in both muscle and skin.",

author = "F.J.D. Smith and R.A.J. Eady and I.M. Leigh and J.R. McMillan and E.L. Rugg and D.P. Kelsell and S.P. Bryant and N.K. Spurr and J.F. Geddes and G. Kirtschig and G. Milana and {De Bono}, A.G. and K. Owaribe and G. Wiche and L. Pulkkinen and J. Uitto and W.H.I. McLean and E.B. Lane",

note = "Medline is the source for the MeSH terms of this document.",

year = "1996",

doi = "10.1038/ng0896-450",

language = "English",

volume = "13",

pages = "450--457",

journal = "Nature Genetics",

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Smith, FJD, Eady, RAJ, Leigh, IM, McMillan, JR, Rugg, EL, Kelsell, DP, Bryant, SP, Spurr, NK, Geddes, JF, Kirtschig, G, Milana, G, De Bono, AG, Owaribe, K, Wiche, G, Pulkkinen, L, Uitto, J, McLean, WHI & Lane, EB 1996, 'Plectin deficiency results in muscular dystrophy with epidermolysis bullosa', Nature Genetics, vol. 13, no. 4, pp. 450-457. https://doi.org/10.1038/ng0896-450

TY - JOUR

T1 - Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

AU - Smith, F.J.D.

AU - Eady, R.A.J.

AU - Leigh, I.M.

AU - McMillan, J.R.

AU - Rugg, E.L.

AU - Kelsell, D.P.

AU - Bryant, S.P.

AU - Spurr, N.K.

AU - Geddes, J.F.

AU - Kirtschig, G.

AU - Milana, G.

AU - De Bono, A.G.

AU - Owaribe, K.

AU - Wiche, G.

AU - Pulkkinen, L.

AU - Uitto, J.

AU - McLean, W.H.I.

AU - Lane, E.B.

N1 - Medline is the source for the MeSH terms of this document.

PY - 1996

Y1 - 1996

N2 - We report that mutation in the gene for plectin, a cytoskeleton-membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex). The evidence comes from absence of plectin by antibody staining in affected individuals from four families, supportive genetic analysis (localization of the human plectin gene to chromosome 8q24.13-qter and evidence for disease segregation with markers in this region) and finally the identification of a homozygous frameshift mutation detected in plectin cDNA. Absence of the large multifunctional cytoskeleton protein plectin can simultaneously account for structural failure in both muscle and skin.

AB - We report that mutation in the gene for plectin, a cytoskeleton-membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex). The evidence comes from absence of plectin by antibody staining in affected individuals from four families, supportive genetic analysis (localization of the human plectin gene to chromosome 8q24.13-qter and evidence for disease segregation with markers in this region) and finally the identification of a homozygous frameshift mutation detected in plectin cDNA. Absence of the large multifunctional cytoskeleton protein plectin can simultaneously account for structural failure in both muscle and skin.

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U2 - 10.1038/ng0896-450

DO - 10.1038/ng0896-450

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AN - SCOPUS:9344248374

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VL - 13

SP - 450

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JO - Nature Genetics

JF - Nature Genetics

IS - 4

ER -

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Abstract

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