Keratin 16 and keratin 17 mutations cause pachyonychia congenita

W.H.I. McLean; E.L. Rugg; D.P. Lunny; S.M. Morley; E.B. Lane; O. Swensson; P.J.C. Dopping-Hepenstal; W.A.D. Griffiths; R.A.J. Eady; C. Higgins; H.A. Navsaria; I.M. Leigh; T. Strachan; L. Kunkeler; C.S. Munro

doi:10.1038/ng0395-273

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

W.H.I. McLean, E.L. Rugg, D.P. Lunny, S.M. Morley, E.B. Lane, O. Swensson, P.J.C. Dopping-Hepenstal, W.A.D. Griffiths, R.A.J. Eady, C. Higgins, H.A. Navsaria, I.M. Leigh, T. Strachan, L. Kunkeler, C.S. Munro

Research output: Contribution to journal › Article › peer-review

299 Citations (Scopus)

Abstract

Pachyonychia congenita (PC) is a group of autosomal dominant disorders characterized by dystrophic nails and other ectodermal aberrations. A gene for Jackson-Lawler PC was recently mapped to the type I keratin cluster on 17q. Here, we show that a heterozygous missense mutation in the helix initiation motif of K17 (Asn92Asp) co-segregates with the disease in this kindred. We also show that Jadassohn-Lewandowsky PC is caused by a heterozygous missense mutation in the helix initiation peptide of K16 (Leu130Pro). The known expression patterns of these keratins in epidermal structures correlates with the specific abnormalities observed in each form of PC.

Original language	English
Pages (from-to)	273-278
Number of pages	6
Journal	Nature Genetics
Volume	9
Issue number	3
DOIs	https://doi.org/10.1038/ng0395-273
Publication status	Published - Mar 1995

Access to Document

10.1038/ng0395-273Licence: Other

Cite this

McLean, W. H. I., Rugg, E. L., Lunny, D. P., Morley, S. M., Lane, E. B., Swensson, O., Dopping-Hepenstal, P. J. C., Griffiths, W. A. D., Eady, R. A. J., Higgins, C., Navsaria, H. A., Leigh, I. M., Strachan, T., Kunkeler, L., & Munro, C. S. (1995). Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nature Genetics, 9(3), 273-278. https://doi.org/10.1038/ng0395-273

@article{ce1f1efc8409466f82a47a8c1152aed5,

title = "Keratin 16 and keratin 17 mutations cause pachyonychia congenita",

abstract = "Pachyonychia congenita (PC) is a group of autosomal dominant disorders characterized by dystrophic nails and other ectodermal aberrations. A gene for Jackson-Lawler PC was recently mapped to the type I keratin cluster on 17q. Here, we show that a heterozygous missense mutation in the helix initiation motif of K17 (Asn92Asp) co-segregates with the disease in this kindred. We also show that Jadassohn-Lewandowsky PC is caused by a heterozygous missense mutation in the helix initiation peptide of K16 (Leu130Pro). The known expression patterns of these keratins in epidermal structures correlates with the specific abnormalities observed in each form of PC.",

author = "W.H.I. McLean and E.L. Rugg and D.P. Lunny and S.M. Morley and E.B. Lane and O. Swensson and P.J.C. Dopping-Hepenstal and W.A.D. Griffiths and R.A.J. Eady and C. Higgins and H.A. Navsaria and I.M. Leigh and T. Strachan and L. Kunkeler and C.S. Munro",

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

year = "1995",

month = mar,

doi = "10.1038/ng0395-273",

language = "English",

volume = "9",

pages = "273--278",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "3",

}

TY - JOUR

T1 - Keratin 16 and keratin 17 mutations cause pachyonychia congenita

AU - McLean, W.H.I.

AU - Rugg, E.L.

AU - Lunny, D.P.

AU - Morley, S.M.

AU - Lane, E.B.

AU - Swensson, O.

AU - Dopping-Hepenstal, P.J.C.

AU - Griffiths, W.A.D.

AU - Eady, R.A.J.

AU - Higgins, C.

AU - Navsaria, H.A.

AU - Leigh, I.M.

AU - Strachan, T.

AU - Kunkeler, L.

AU - Munro, C.S.

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

PY - 1995/3

Y1 - 1995/3

N2 - Pachyonychia congenita (PC) is a group of autosomal dominant disorders characterized by dystrophic nails and other ectodermal aberrations. A gene for Jackson-Lawler PC was recently mapped to the type I keratin cluster on 17q. Here, we show that a heterozygous missense mutation in the helix initiation motif of K17 (Asn92Asp) co-segregates with the disease in this kindred. We also show that Jadassohn-Lewandowsky PC is caused by a heterozygous missense mutation in the helix initiation peptide of K16 (Leu130Pro). The known expression patterns of these keratins in epidermal structures correlates with the specific abnormalities observed in each form of PC.

AB - Pachyonychia congenita (PC) is a group of autosomal dominant disorders characterized by dystrophic nails and other ectodermal aberrations. A gene for Jackson-Lawler PC was recently mapped to the type I keratin cluster on 17q. Here, we show that a heterozygous missense mutation in the helix initiation motif of K17 (Asn92Asp) co-segregates with the disease in this kindred. We also show that Jadassohn-Lewandowsky PC is caused by a heterozygous missense mutation in the helix initiation peptide of K16 (Leu130Pro). The known expression patterns of these keratins in epidermal structures correlates with the specific abnormalities observed in each form of PC.

UR - http://www.scopus.com/inward/record.url?scp=0028842339&partnerID=8YFLogxK

U2 - 10.1038/ng0395-273

DO - 10.1038/ng0395-273

M3 - Article

AN - SCOPUS:0028842339

SN - 1061-4036

VL - 9

SP - 273

EP - 278

JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

Abstract

Access to Document

Other files and links

Fingerprint

Cite this