Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencing

Br J Dermatol. 2017 Jul;177(1):284-286. doi: 10.1111/bjd.15066. Epub 2017 Jun 14.

Authors

S Gagliardi¹, I Ricca¹, A Ferrarini², M Valente¹, G S Grieco¹, G Piccolo³, E Alfonsi⁴, M Delledonne^{2

5}, C Cereda¹

Affiliations

¹ Genomic and Post-Genomic Center, National Neurological Institute C. Mondino, Pavia, Italy.
² Department of Biotechnologies, University of Verona, Verona, Italy.
³ Consultant Neurologist, National Neurological Institute C. Mondino, Pavia, Italy.
⁴ Neurophysiology Unit, IRCCS National Neurological Institute "C. Mondino", Pavia, Italy.
⁵ Personal Genomics Srl, Verona, Italy.

PMID: 27639257
DOI: 10.1111/bjd.15066

No abstract available

Publication types

Letter

MeSH terms

Adult
Charcot-Marie-Tooth Disease / genetics*
Child, Preschool
Exome Sequencing
Female
Humans
Keratin-1 / genetics*
Keratoderma, Palmoplantar / genetics*
Male
Middle Aged
Mutation, Missense / genetics*
Myelin P0 Protein / genetics*
Pedigree
Point Mutation / genetics*

Substances

KRT1 protein, human
Keratin-1
MPZ protein, human
Myelin P0 Protein