Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens.

Abstract

Ichthyosis bullosa of Siemens (IBS) is a rare disorder of cornification characterized by blister formation in the upper suprabasal layers of the epidermis. Molecular analysis of IBS has identified mutations in the keratin 2e (K2e) gene, which is located in the type II keratin gene cluster on chromosome 12q. We have studied two IBS families and have identified heterozygous point mutations in codon 493 of the K2e gene in both families. Whereas a non-conservative amino acid substitution at position 117 of the 2B region of K2e (E117K) was associated with a severe phenotype in family 1, family 2 showed mild clinical features as a result of a conservative substitution (E117D). These data suggest a phenotype-genotype correlation in these families.

• Authors: Y Suga, M J Arin, G Scott, L A Goldsmith, C M Magro, L A Baden, H P Baden, D R Roop
• Journal: Experimental dermatology (Exp Dermatol) Vol. 9 Issue 1 Pg. 11-5 (Feb 2000) ISSN: 0906-6705 [Print] Denmark
• PMID: 10688369 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• DNA Primers
• KRT2 protein, human
• Keratin-2
• Keratins
• DNA

Topics

• Adult
• Alleles
• Amino Acid Sequence
• Amino Acid Substitution
• Base Sequence
• DNA (genetics)
• DNA Primers (genetics)
• Female
• Genotype
• Heterozygote
• Humans
• Ichthyosis (genetics, pathology)
• Keratin-2
• Keratins (genetics)
• Male
• Pedigree
• Phenotype
• Point Mutation
• Polymerase Chain Reaction