A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema | Zendy

YaliciArmagan Basak | Zendy; Kabacam Serkan | Zendy; Taskiran Zihni Ekim | Zendy; Gököz Özay | Zendy; Utine Gülen Eda | Zendy; ErsoyEvans Sibel | Zendy

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A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema

Author(s) -

YaliciArmagan Basak,

Kabacam Serkan,

Taskiran Zihni Ekim,

Gököz Özay,

Utine Gülen Eda,

ErsoyEvans Sibel

Publication year - 2020

Publication title -

pediatric dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.542

H-Index - 73

eISSN - 1525-1470

pISSN - 0736-8046

DOI - 10.1111/pde.14087

Subject(s) - epidermolysis bullosa simplex , missense mutation , keratin 5 , frameshift mutation , mutation , exon , medicine , epidermolysis bullosa , keratin , genetics , dermatology , pathology , biology , gene

Epidermolysis bullosa simplex migratory circinate erythema (EBS‐Migr) is an uncommon subtype of EBS. We report a case of EBS‐MIGR with a novel heterozygous pathogenic mutation in exon 9 (frameshift deletion c.1650delC) and likely benign heterozygous mutation in exon 2 (missense c.591C > A) of keratin 5. This novel pathogenic mutation in KRT5 expands the molecular spectrum of this rare subtype of EBS.

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