Semidominant Inheritance in Epidermolytic Ichthyosis

April 2013 in “ Journal of Investigative Dermatology ”

Janna Nousbeck, Gilly Padalon‐Brauch, Dana Fuchs‐Telem, Shirli Israeli, Ofer Sarig, Ruth Sheffer, Eli Sprecher

epidermolytic ichthyosis KRT1 gene p.E182K amino acid substitution callosities EI keratin 1

Studysummary This study reports a semidominant inheritance of epidermolytic ichthyosis due to a KRT1 mutation, which was previously thought to be only inherited dominantly. Our plain-language summary of this paper — not a Tressless recommendation.

The study reported a case of semidominant inheritance in a 2-year-old female with epidermolytic ichthyosis (EI) due to a homozygous G>A mutation in the KRT1 gene, resulting in the p.E182K amino acid substitution. Both parents, who were first-degree cousins, carried the mutation in a heterozygous state and had mild skin symptoms. This finding expanded the understanding of EI inheritance, suggesting that mild KRT1 mutations might cause common callosities, contrasting with previously known dominant and recessive patterns.

View this study on jidonline.org →

Discuss this study in the Community →

Research cited in this study

4 / 4 results

research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita

22 citations , February 2012 in “Journal of Investigative Dermatology”

A specific gene mutation causes severe skin and nail issues and hair loss.

research Keratin Disorders: From Gene to Therapy

109 citations , September 2011 in “Human molecular genetics online/Human molecular genetics”

This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.

research Keratin Gene Mutations in Disorders of Human Skin and Its Appendages

185 citations , December 2010 in “Archives of Biochemistry and Biophysics”

Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.

research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6

32 citations , January 2000 in “Human Heredity”

This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.