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- Title
Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes.
- Authors
Zamiri, M.; Wilson, N.J.; O'Toole, E.A.; Smith, F.J.D.
- Abstract
Dear Editor, Striate palmoplantar keratoderma (SPPK) (OMIM 148700) is an autosomal dominant genodermatosis characterized by linear hyperkeratosis of the volar aspects of the fingers extending onto the palm, associated with focal to diffuse hyperkeratosis of the soles.[1] It is caused by heterozygous mutations in four different genes: desmoglein 1 ( I DSG1 i ), desmoplakin ( I DSP i ), keratin 1 ( I KRT1 i ) and keratin 16 ( I KRT16 i ).[[1]] We report three families, one Scottish, one English and one American, with autosomal dominant PPK as a result of three previously unreported I DSG1 i mutations, where the presence of a striate pattern appears linked to the severity of the phenotype. Family 1 was initially screened for focal pattern PPK/pachyonychia congenita mutations by polymerase chain reaction (PCR) and direct DNA Sanger sequencing of the keratin genes I KRT6A i , I KRT6B i , I KRT6C i , I KRT16 i and I KRT17 i , before proceeding to I DSG1 i gene screening.[1] The coding region and intron/exon boundaries of I DSG1 i were amplified using primers specific to I DSG1 i (details available on request from the authors). A previously unreported 1 base pair heterozygous deletion mutation in I DSG1 i , c.376 376delT, leading to a frameshift and premature stop codon, p.Tyr126Thrfs*5 was identified in the proband of family 1 and in three additional affected family members; two unaffected family members were wild-type.
- Subjects
PALMOPLANTAR keratoderma; PHENOTYPES; STOP codons
- Publication
British Journal of Dermatology, 2019, Vol 181, Issue 3, p618
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1111/bjd.17839