X-linked and autosomal dominant forms of the ichthyosis in coinheritance

Alaverdian, Diana; Fedyakov, Mikhail A.; E, Polennikova; Иващенко, Т. Э.; Щербак, С. Г.; Urasov, Stanislav; Tsay, Victoria V.; Glotov, Oleg S.

doi:10.1515/dmpt-2019-0008

Cited by 3 publications

(6 citation statements)

References 5 publications

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“…Among the documented FLG loss of function variants in our study, 20% of the variants were previously reported in European and Asian populations and 80% were unique variants. 16,17,19,20 India is home to more than 2000 ethnic populations, whose genetic origins are complex. The present Indian population is genetically heterogeneous with an admixture of ancestral north Indians comprising the majority and having roots in the Middle East, Central Asia and Europe and ancestral south Indians that have no relation to any population outside India.…”

Section: Molecular Resultsmentioning

confidence: 99%

Filaggrin gene polymorphisms in Indian children with atopic dermatitis: A cross-sectional multicentre study

Srinivas

Dhar

Gowdra

et al. 2023

IJDVL

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Background Filaggrin (FLG) gene encoding the protein filaggrin plays an important role in barrier function of the skin and its alteration is a predisposing factor for atopic dermatitis. FLG gene variants result in absent or decreased filaggrin protein. Worldwide, the prevalence of FLG variants ranges from 14 to 56%. FLG null variants are distinct in each population. Objectives To study the FLG gene polymorphisms in Indian children and attempt a genotype-phenotype correlation in atopic dermatitis. Methods This was a cross-sectional, multicentre study conducted on 75 Indian children. Demographic details, clinical features and identified FLG null variants were recorded. We performed a whole gene sequencing of the entire FLG coding region using next-generation sequencing technology. Results The prevalence of FLG null variants was 34.7%. A total of 20 different FLG loss of function variants in 26 children were documented. Sixteen (80%) variants were novel and four (20%) were previously reported in Asian and European populations. We found a statistically significant association between FLG variants with early age of onset of atopic dermatitis (P = 0.016) and elevated serum IgE levels (P = 0.051). There was no significant difference between atopic dermatitis phenotypes in children having one variant as compared to children harbouring two or more null variants. Limitation Small sample size. Conclusion Our study reports a unique set of FLG variants different from Asian and European populations, with these variants being significantly associated with an early age of onset of atopic dermatitis and elevated serum IgE levels.

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Section: Molecular Resultsmentioning

confidence: 99%

Filaggrin gene polymorphisms in Indian children with atopic dermatitis: A cross-sectional multicentre study

Srinivas

Dhar

Gowdra

et al. 2023

IJDVL

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“…Such cases are not as rare as they may seem. For instance, we would like to refer to a case of the coinheritance of X-linked and dominant forms of ichthyosis [ 51 ]. This information may be valuable for genetic counseling because of similar clinical symptoms.…”

Section: Human Monogenic Diseases: Population Genetics Researchmentioning

confidence: 99%

Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience

Glotov

Chernov

Glotov

2023

JPM

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Today, whole-exome sequencing (WES) is used to conduct the massive screening of structural and regulatory genes in order to identify the allele frequencies of disease-associated polymorphisms in various populations and thus detect pathogenic genetic changes (mutations or polymorphisms) conducive to malfunctional protein sequences. With its extensive capabilities, exome sequencing today allows both the diagnosis of monogenic diseases (MDs) and the examination of seemingly healthy populations to reveal a wide range of potential risks prior to disease manifestation (in the future, exome sequencing may outpace costly and less informative genome sequencing to become the first-line examination technique). This review establishes the human genetic passport as a new WES-based clinical concept for the identification of new candidate genes, gene variants, and molecular mechanisms in the diagnosis, prediction, and treatment of monogenic, oligogenic, and multifactorial diseases. Various diseases are addressed to demonstrate the extensive potential of WES and consider its advantages as well as disadvantages. Thus, WES can become a general test with a broad spectrum pf applications, including opportunistic screening.

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“… 16 The frequency and type of these mutations vary among populations, and they all lead to loss of filaggrin expression. Another mutation, p. Arg2037Ter in the heterozygous condition was previously identified as pathogenic in databases 35 with a penetrance of 90%. This nonsense mutation introduces a premature stop codon in the transcript of the mutant at position 2037, resulting in a truncated protein.…”

Section: Aetiology and Pathogenesismentioning

confidence: 99%

“…Ichthyosis vulgaris has also been presented with comorbidities such as x‐linked ichthyosis, 35 disseminated tinea, 50 palmoplantar pustulosis (PPP), 51 and acute intermittent porphyria 52 . However, the association between ichthyosis vulgaris and any of these diseases has not been proved and could be a coincidence.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

“…1 Pruritus, allergic rhinoconjunctivitis, hypohidrosis, heat intolerance, and recurrent infections due to a disturbed skin barrier are other common occurrences. 43 Ichthyosis vulgaris has also been presented with comorbidities such as x-linked ichthyosis, 35 disseminated tinea, 50 palmoplantar pustulosis (PPP), 51 and acute intermittent porphyria. 52 However, the association between ichthyosis vulgaris and any of these diseases has not been proved and could be a coincidence.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

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Ichthyosis vulgaris: An updated review

Jaffar

Shakir

Kumar

et al. 2022

Skin Health and Disease

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Ichthyosis vulgaris is an inherited, non‐syndromic form of ichthyosis that presents with skin problems. Making up more than 95% cases of ichthyosis, ichthyosis vulgaris is caused by heterozygous loss‐of‐function mutation of the filaggrin gene, raising the fragility and permeability of the stratum corneum. It typically presents in infancy as xerosis, skin lesions, keratosis pilaris, palmoplantar hyper linearity, scaly dermatosis, and erythroderma, clearly identifiable by age 5. Although majority of patients have a normal lifespan, possible complications include a vitamin D deficiency and auditory problems due to scaling in the ears, besides a drop in quality of life due to dermatological changes. Urea‐based creams with 10% urea, ceramides, and other ceramides are often the first line therapy in ichthyosis vulgaris. There is no known curative treatment for ichthyosis vulgaris, but lifelong treatment can alleviate the symptoms. Urea‐based creams are highly therapeutic, whereas ammonium lactate 12% lotion with a physiological lipid‐based repair cream can help with scaling and dryness. There is also evidence in favour of propylene glycol solutions. Risankizumab, an anti‐interleukin‐23 drug, and enhancement of natural moisturizing factors are also two highly promising solutions that require additional research. This review aims to provide updates on the manifestation, evaluation, and treatment of ichthyosis vulgaris.

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X-linked and autosomal dominant forms of the ichthyosis in coinheritance

Cited by 3 publications

References 5 publications

Filaggrin gene polymorphisms in Indian children with atopic dermatitis: A cross-sectional multicentre study

Filaggrin gene polymorphisms in Indian children with atopic dermatitis: A cross-sectional multicentre study

Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience

Ichthyosis vulgaris: An updated review

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