Clinical and Genetic Heterogeneity of Erythrokeratoderma Variabilis

Common, John E.A.; O’Toole, Edel A.; Leigh, Irene M.; Thomas, Anna; Griffiths, W.A.D.; Venning, Vanessa; Grabczynska, Sophie; Periš, Zdravko; Kansky, Aleksej; Kelsell, David P.

doi:10.1111/j.0022-202x.2005.23919.x

Cited by 56 publications

(48 citation statements)

References 27 publications

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“…Highly variable intrafamilial phenotypes were also noted, suggesting a strong influence of modifying genetic and epigenetic factors (2). Other studies also demonstrated that not all EKV cases harbour tnutations in Cx31 and Cx30.3 (14,15). Indeed, we could not find any hotspot mutations in members of this Chinese family.…”

Section: Discussionsupporting

confidence: 51%

Familial Erythrokeratodermia Variabilis with Pustular Lesions: A New Variant?

Zhang

Huo²,

Gao³

et al. 2010

Acta Derm Venerol

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We report here a Chinese family with erythrokeratodermia variabilis which had 30 affected members. The patients had characteristic clinical features of stationary and migratory lesions. Some of the patients had adult onset of the disease. Five out of 30 patients noted episodes of pustule-like lesions during their disease course. Histological examination of the proband showed granular cell vacuolation and upper-epidermal neutrophil aggregates. Mitochondria vacuolation was noted in keratinocytes by electron microscopic examination. No GJB3 and GJB4 pathogenic mutation was detected. These unusual presentations suggested a new phenotypic and genetic correlation in this Chinese pedigree of erythrokeratodermia variabilis.

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Section: Discussionsupporting

confidence: 51%

Familial Erythrokeratodermia Variabilis with Pustular Lesions: A New Variant?

Zhang

Huo²,

Gao³

et al. 2010

Acta Derm Venerol

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“…Separating the two possibilities can be challenging but we have taken several factors into account when assessing the level of support of the original link. For example, lack of skin phenotype in the individual with LOF in GJB4 is likely due to incomplete penetrance, since this has previously been documented (Common et al 2005). Age-related penetrance represents another challenge as with the case that harbors a homozygous LOF in ZMYND15, which had been linked to spermatogenesis failure in adult males (Ayhan et al 2014).…”

Section: Electronic Supplementary Materialsmentioning

confidence: 99%

Revisiting disease genes based on whole-exome sequencing in consanguineous populations

et al. 2015

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Assigning a causal role for genes in disease states is one of the most significant medical applications of human genetics research. The requirement for at least two different pathogenic alleles in the same gene in individuals with a similar phenotype to assign a causal link has not always been fully adhered to, and we now know that even two alleles may not necessarily constitute sufficient evidence. Autozygosity is a rich source of natural "knockout" events by virtue of rendering ancestral loss-of-function (LOF) variants homozygous. In this study, we exploit this phenomenon by examining 523 exomes enriched for autozygosity to call into question previously published disease links for several genes based on the identification of confirmed homozygous LOF variants in the absence of the purported diseases. This study highlights an additional advantage of consanguineous populations in the quest to improve the medical annotation of the human genome.

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“…The full-length coding region of drCx34.4 encompasses 900 bp and encodes a protein of 299 amino acids (aa). The ortholog genes in higher mammals are the connexin genes Cx30.3/31.1, genes with no known expression in the mammalian retina but profound correlation with erythrokeratodermia variabilis (EKV), a mostly autosomal dominant disorder of keratinization (Plantard et al 2003;Common et al 2005).…”

Section: Cloning Of Seven Novel Connexin Genes Expressed In the Adultmentioning

confidence: 99%

Molecular Diversity of Connexin and Pannexin Genes in the Retina of the ZebrafishDanio rerio

Zoidl

Kremer

Zoidl

et al. 2008

Cell Communication & Adhesion

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Gap junctions are among the most widely distributed cell structures involved in cell-to-cell communication. Recently completed genome sequencing projects including species from all major phyla have demonstrated the existence of three distinct gene families, the connexins, pannexins, and innexins, as molecular building blocks of gap junctional communication. In the present study, the authors have addressed the molecular complexity of gap junction gene expression in the zebrafish retina, a remarkably complex sensory organ built by diverse neuronal subtypes. Using a combination of cDNA library and genomic DNA library screening and/or RACE technology, the authors have cloned, in addition to the four previously reported connexins, seven novel connexins and four pannexin transcripts resembling two pannexin genes. This result demonstrates the presence of two distinct gap junction type gene families and indicates a remarkable molecular and functional diversity of gap junction-mediated coupling in the fish retina.

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Clinical and Genetic Heterogeneity of Erythrokeratoderma Variabilis

Cited by 56 publications

References 27 publications

Familial Erythrokeratodermia Variabilis with Pustular Lesions: A New Variant?

Familial Erythrokeratodermia Variabilis with Pustular Lesions: A New Variant?

Revisiting disease genes based on whole-exome sequencing in consanguineous populations

Molecular Diversity of Connexin and Pannexin Genes in the Retina of the ZebrafishDanio rerio

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