title: One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex.
abstract: Epidermolysis bullosa simplex (EBS) is a group of inherited skin diseases, characterized by the formation of intraepidermal blisters. We performed genetic analysis of the keratin 5 (KRT5) gene in two Chinese pedigrees. One novel missense mutation was identified in a patient with sporadic EBS (general, non-Dowling-Meara). Sequence analysis showed a heterozygous T > A transition at nucleotide 1730 of KRT5, changing phenylalanine (Phe) to tyrosine (Tyr) at position 577 of the keratin 5 (K5). In addition, two recurrent mutations c.1649delG (p.Gly550AlafsX77) and c.508G > (p.Glu170Lys) in KRT5 were identified in Chinese patients with mottled pigmentation EBS and localized EBS, respectively. None of the mutations were found in any unaffected family members or in an additional 100 unrelated control samples. These results suggest that these mutations are pathogenic and might be one of the potential causes of EBS in these Chinese patients.
authors.affiliation: Institute of Dermatology & Department of Dermatology at First Hospital, Anhui Medical University, Anhui, China.
authors.forename: H Y
authors.initials: HY
authors.lastname: Tang
authors.forename: W D
authors.initials: WD
authors.lastname: Du
authors.forename: Y
authors.initials: Y
authors.lastname: Cui
authors.forename: X
authors.initials: X
authors.lastname: Fan
authors.forename: C
authors.initials: C
authors.lastname: Quan
authors.forename: Q Y
authors.initials: QY
authors.lastname: Fang
authors.forename: F S
authors.initials: FS
authors.lastname: Zhou
authors.forename: F M
authors.initials: FM
authors.lastname: Yao
authors.forename: J F
authors.initials: JF
authors.lastname: Wang
authors.forename: S
authors.initials: S
authors.lastname: Yang
authors.forename: X
authors.initials: X
authors.lastname: Zhang
mesh_terms: D044466:Asian People / Q000235:genetics*; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D005260:Female; D005838:Genotype; D006801:Humans; D053555:Keratin-5 / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D012008:Recurrence
chemical_list: D053555:Keratin-5