RGD Reference Report - Keratin 16 and keratin 17 mutations cause pachyonychia congenita. - Rat Genome Database

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Keratin 16 and keratin 17 mutations cause pachyonychia congenita.

Authors: McLean, WH  Rugg, EL  Lunny, DP  Morley, SM  Lane, EB  Swensson, O  Dopping-Hepenstal, PJ  Griffiths, WA  Eady, RA  Higgins, C 
Citation: McLean WH, etal., Nat Genet. 1995 Mar;9(3):273-8.
RGD ID: 1600184
Pubmed: PMID:7539673   (View Abstract at PubMed)
DOI: DOI:10.1038/ng0395-273   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
ectodermal dysplasia susceptibilityIAGP 1600184protein:mutation: more ...RGD 
ectodermal dysplasia susceptibilityIAGP 1600184protein:mutation: more ...RGD 
ectodermal dysplasia susceptibilityISOKRT16 (Homo sapiens)1600184; 1600184protein:mutation: more ...RGD 
ectodermal dysplasia susceptibilityISOKRT17 (Homo sapiens)1600184; 1600184protein:mutation: more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Krt16  (keratin 16)
Krt17  (keratin 17)

Genes (Mus musculus)
Krt16  (keratin 16)
Krt17  (keratin 17)

Genes (Homo sapiens)
KRT16  (keratin 16)
KRT17  (keratin 17)


Additional Information