RGD Reference Report - Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.

Authors: Rothnagel, JA  Traupe, H  Wojcik, S  Huber, M  Hohl, D  Pittelkow, MR  Saeki, H  Ishibashi, Y  Roop, DR 
Citation: Rothnagel JA, etal., Nat Genet. 1994 Aug;7(4):485-90.
RGD ID: 1600192
Pubmed: (View Article at PubMed) PMID:7524919
DOI: Full-text: DOI:10.1038/ng0894-485

Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant skin disorder that resembles epidermolytic hyperkeratosis (EHK). We have identified mutations in two families originally diagnosed with EHK and in four families diagnosed with IBS at the same codon in the highly conserved carboxy terminal of the rod domain of keratin 2e, thus revealing a mutational hot spot. Our results allow a differential diagnosis to be made between IBS and EHK at the genetic level and we suggest that patients diagnosed with EHK, but lacking keratin K1 or K10 mutations, should be re-examined for mutations in their K2e genes.

Annotation

Disease Annotations    
ichthyosis  (IAGP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
Krt2  (keratin 2)

Genes (Mus musculus)
Krt2  (keratin 2)

Genes (Homo sapiens)
KRT2  (keratin 2)


Additional Information