Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg.

Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg. Acta Derm Venereol. 2019 May 17;: Authors: Godillot C, Severino-Freire M, Michaud V, Boralevi F, Labrèze C, Guigonis V, Onnis G, Morice-Picard F, Mazereeuw-Hautier J PMID: 31099403 [PubMed - as supplied by publisher]
Source: Acta Dermato-Venereologica - Category: Dermatology Authors: Tags: Acta Derm Venereol Source Type: research

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Source: Journal of Dermatological Science - Category: Dermatology Authors: Source Type: research
ConclusionTo that end, a KID syndrome cell line (KID-KC) was established from primary keratinocytes of a KID syndrome patient with heterozygous p.D50N mutation, which displayed impaired gap junction intercellular communication and hyperactive hemichannels, confirmed by dye transfer, patch clamp and neurobiotin uptake assays. In KID-KCs, treatment with AS-siRNA led to robust inhibition of the mutant GJB2 allele without altering expression of the wildtype allele. This resulted in correction of both gap junction intercellular communication and hemichannel activity. Furthermore, AS-siRNA treatment caused only low-level off-tar...
Source: Cytotherapy - Category: Cytology Source Type: research
Conclusions In this review, we collected all the information concerning the OMICs studies performed on HS patients aimed at unraveling the mechanisms at the basis of the disease or associated to clinical severity and/or the successful response to pharmacological treatment (including biological drugs). The general picture of the OMICs contribution in the context of HS is not so clear and/or rich of clinical useful information, since most of the studies focused only on one aspect (genome, transcriptome, or proteome) of the disease, enrolling small numbers of patients (this is quite limiting for the genetic studies) from di...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Discussion We have found that, in the human genome, the promoter regions of ID-associated genes are uniquely enriched in MER41 LTRs. More specifically, nine ID-associated genes that are putatively important in cognitive evolution exhibit MER41 LTRs in their promoter regions. As more than 100 families of HERV are integrated into our genome, it was important to determine whether our findings are specific to MER41 and to ID-associated genes, and if so to what extent. Among the 133 families of HERV explored here, MER41 is the only family whose LTRs were found with statistically high frequency in the promoter regions of ID-ass...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Abstract Skin cancer has become the most common type of cancer worldwide as a result of environmental exposure and medical treatments. A small group of patients are genetically predisposed to skin cancer and this article is intended as a diagnostic tool when encountering patients with multiple skin cancer lesions. The disorders are described with clinical characteristics, genetics and management. The most common syndromes associated with basal cell carcinoma are: Gorlin-Goltz syndrome, Rombo syndrome, and Bazex-Dupré-Christol syndrome. Multiple squamous cell carcinomas can be related to: xeroderma pigmentos...
Source: Acta Dermato-Venereologica - Category: Dermatology Authors: Tags: Acta Derm Venereol Source Type: research
We present evidence that KID syndrome can be caused by a homozygous GJB2 mutation and demonstrate an autosomal recessive mode of inheritance for the first time at a molecular level.The spectrum of skin manifestations associated with gap junction gene mutations is still growing, particularly in the case of Cx26. Our findings add to the list of pathogenic variants associated with this condition, and contribute to an insight into the genotype-phenotype correlations of Cx26 mutations, thus elucidating the function of different regions of the protein and further add to the widely diverging associated phenotypes.
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research
Infant death in KID syndrome is recognized; its association with specific genotypes and pathophysiology is inadequately understood.
Source: Journal of the American Academy of Dermatology - Category: Dermatology Authors: Source Type: research
Conclusions: Because biochemical and clinical findings are variable, the diagnosis is difficult in most of the cases. Detailed skin and physical examinations are mandatory in these patients. Genetic tests are necessary for accurate diagnosis.
Source: Journal of Pediatric Neurosciences - Category: Neuroscience Authors: Source Type: research
We examined the relationship between disease severity and QOL in patients with CI, especially in patients with harlequin ichthyosis (HI) and ichthyosis: syndromic forms (Netherton syndrome, Sj ögren-Larsson syndrome, Dorfman-Chanarin syndrome, keratitis-ichthyosis-deafness syndrome, and trichothiodystrophy). Patients with HI or ichthyosis: syndromic forms who were aged 8 years or older and who participated in a multicenter retrospective questionnaire survey in Japan were assessed by derm atology life quality index (DLQI, range of 0-30) and CI disease severity score (range of 0-100).
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Clinical Research: Epidemiology of Skin Diseases Source Type: research
In January, 2018, Academic Press published my bookPrecision Medicine and the Reinvention of Human Disease. This book has an excellent " look inside " at itsGoogle book site, which includes the Table of Contents. In addition, I thought it might be helpful to see the topics listed in the Book's index. Note that page numbers followed by f indicate figures, t indicate tables, and ge indicate glossary terms.AAbandonware, 270, 310geAb initio, 34, 48ge, 108geABL (abelson leukemia) gene, 28, 58ge, 95 –97Absidia corymbifera, 218Acanthameoba, 213Acanthosis nigricans, 144geAchondroplasia, 74, 143ge, 354geAcne, 54ge, 1...
Source: Specified Life - Category: Information Technology Tags: index jules berman jules j berman precision medicine Source Type: blogs
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