Table 12.

Epidermolysis Bullosa Simplex: Notable Pathogenic Variants by Gene

Gene 1Reference SequencesDNA Nucleotide
Protein Change
Comment [Reference]
KRT5 NM_000424​.4
c.74C>Tp.Pro25LeuAccounts for 90%-95% of identified pathogenic variants in persons w/EBS w/mottled pigmentation [Moog et al 1999]
c.1649delGp.Gly550AlafsTer77Assoc w/EBS w/mottled pigmentation [Horiguchi et al 2005]
KRT14 NM_000526​.5
c.356T>Cp.Met119ThrAssoc w/EBS w/mottled pigmentation [Harel et al 2006]
c.368A>Gp.Asn123SerAccount for ~70% of persons w/severe EBS [Stephens et al 1997, Pfendner et al 2005]
NG_008624​.1  c.1117_1158dup42Assoc w/EBS w/mottled pigmentation [Arin et al 2010]
PLEC NM_000445​.5
c.5998C>Tp.Arg2000TrpAssoc w/AD EBS, intermediate w/PLEC pathogenic variants (previously called EBS-Ogna) [Koss-Harnes et al 2002, Kiritsi et al 2013]

AD = autosomal dominant; EBS = epidermolysis bullosa simplex

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​ See Quick Reference for an explanation of nomenclature.


Genes from Table 1 in alphabetic order

From: Epidermolysis Bullosa Simplex

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