scholarly journals Striate palmoplantar keratoderma resulting from a missense mutation in DSG1

2018 ◽  
Vol 179 (3) ◽  
pp. 755-757 ◽  
Author(s):  
D. Vodo ◽  
E.A. O'Toole ◽  
N. Malchin ◽  
A. Lahav ◽  
N. Adir ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Palmoplantar Keratoderma

scholarly journals A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness

2008 ◽  
Vol 173 (4) ◽  
pp. 1113-1119 ◽  
Author(s):  
Eugene A. de Zwart-Storm ◽  
Michel van Geel ◽  
Pierre A.F.A. van Neer ◽  
Peter M. Steijlen ◽  
Patricia E. Martin ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Extracellular Domain ◽  
Palmoplantar Keratoderma

Novel KRT9 missense mutation in a Japanese case of epidermolytic palmoplantar keratoderma

2017 ◽  
Vol 45 (4) ◽  
pp. e72-e73 ◽  
Author(s):  
Yoshie Fukunaga ◽  
Akiharu Kubo ◽  
Takashi Sasaki ◽  
Daisuke Tsuruta ◽  
Kazuyoshi Fukai
Keyword(s):  
Missense Mutation ◽  
Palmoplantar Keratoderma ◽  
Japanese Case

Japanese case of Bothnian-type palmoplantar keratoderma with a novel missense mutation of p.Trp35Ser in extracellular loop A of aquaporin-5

2018 ◽  
Vol 46 (3) ◽  
pp. e104-e106
Author(s):  
Yoshihiro Wada ◽  
Minori Kusakabe ◽  
Makoto Nagai ◽  
Yasutomo Imai ◽  
Kiyofumi Yamanishi
Keyword(s):  
Missense Mutation ◽  
Extracellular Loop ◽  
Palmoplantar Keratoderma ◽  
Aquaporin 5 ◽  
Japanese Case

A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness

2007 ◽  
Vol 45 (3) ◽  
pp. 161-166 ◽  
Author(s):  
E A de Zwart-Storm ◽  
H Hamm ◽  
J Stoevesandt ◽  
P M Steijlen ◽  
P E Martin ◽  
...  
Keyword(s):  
Gap Junction ◽  
Missense Mutation ◽  
Protein Transport ◽  
Palmoplantar Keratoderma ◽  
Junction Protein ◽  
Gap Junction Protein

scholarly journals 773 Striate palmoplantar keratoderma resulting from a missense mutation in DSG1

2018 ◽  
Vol 138 (5) ◽  
pp. S131
Author(s):  
D. Vodo ◽  
E. O'Toole ◽  
N. Malchin ◽  
A. Lahav ◽  
N. Adir ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Palmoplantar Keratoderma

scholarly journals Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma

2018 ◽  
Vol 46 (5) ◽  
pp. 1919-1929 ◽  
Author(s):  
Heng Xiao ◽  
Yi Guo ◽  
Junhui Yi ◽  
Hong Xia ◽  
Hongbo Xu ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Network Formation ◽  
Han Chinese ◽  
Dominant Negative ◽  
Confocal Laser ◽  
Chinese Family ◽  
Cell Periphery ◽  
Hacat Cells ◽  
Wild Type ◽  
Palmoplantar Keratoderma

Background/Aims: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatosis. It is characterized by diffuse yellow keratoses on the palmoplantar epidermis, with an erythematous border. The keratin 9 gene (KRT9) and less frequently the keratin 1 gene (KRT1) are responsible for EPPK. This study aims to identify and analyse genetic defects responsible for EPPK in a Han Chinese pedigree. Methods: A four-generation Han Chinese pedigree containing five individuals affected with EPPK was recruited. Exome sequencing, Sanger sequencing, and bioinformatics tools were conducted to identify the mutation in this pedigree. HaCaT cells were transfected with either wild-type or mutated KRT9. Confocal laser immunofluorescence assay, imaging processing, and statistical analysis were performed to evaluate wild-type and mutant KRT9 groups. Results: A novel heterozygous c.1369C>T transition (p.Leu457Phe) in exon 6 of the KRT9 gene was identified in four patients. It co-segregated with the disorder in the family. Functional analysis showed that withdrawal of the filament network from the cell periphery and particle formation were present in about 10% of Leu457Phe-transfected HaCaT cells, while approximately 3% of cells transfected with wild-type KRT9 showed this phenotype. The particles in mutant group were larger than that in wild-type group (P-value < 0.05). Conclusion: The variant may be the disease-causing missense mutation and produce dominant negative effects by interrupting keratin network formation. This study indicates the pathogenic role of the KRT9 gene mutation in this pedigree with EPPK, and may be helpful in genetic counseling, prenatal diagnosis and gene-targeted therapies of EPPK.

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