Xeroderma Pigmentosa: Three New Cases with an In Depth Review of the Genetic and Clinical Characteristics of the Disease

Karass, Michael; Naguib, Mina M.; Elawabdeh, Nancy; Cundiff, Caitlin A.; Thomason, Jenna; Steelman, Charlotte K.; Cone, Ryan; Schwenkter, Ann; Jordan, Caroline; Shehata, Bahig M.

doi:10.3109/15513815.2014.982336

Cited by 24 publications

(16 citation statements)

References 21 publications

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“…There are more than 10 genes which can lead to cutaneous dyschromias and more than 60 in pigmentary dermatosis. [ 18 ] Different diseases, such as xeroderma pigmentosum[ 19 ] and dermatopathia pigmentosa reticularis,[ 20 ] need to be distinguished in clinical practice. [ 21 ] Timely and accurate genetic diagnosis will save patients from unnecessary laboratory tests and provide etiotropic suggestions.…”

Section: Discussionmentioning

confidence: 99%

Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing

Liu

Asan

Sun

et al. 2016

Chinese Medical Journal

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Background:The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria are two major types. While clinical and histological presentations are similar in these two diseases, genetic diagnosis is critical in the differential diagnosis of these entities.Methods:Three patients initially diagnosed with DUH were included. The gene test was carried out by targeted gene sequencing. All mutations detected on ADAR1 and ABCB6 genes were analyzed according to the frequency in control database, the mutation types, and the published evidence to determine the pathogenicity.Results:Family pedigree and clinical presentations were reported in 3 patients from two Chinese families. All patients have prominent cutaneous dyschromatoses involving the whole body without systemic complications. Different pathogenic genes in these patients with similar phenotype were identified: One novel mutation on ADAR1 (c. 1325C>G) and one recurrent mutation in ABCB6 (c. 1270T>C), which successfully distinguished two diseases with the similar phenotype.Conclusion:Targeted gene sequencing is an effective tool for genetic diagnosis in pigmentary skin diseases.

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Section: Discussionmentioning

confidence: 99%

Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing

Liu

Asan

Sun

et al. 2016

Chinese Medical Journal

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“…Concordances with how individuals usually age are also seen among some of the many eye pathologies in these patients, including ocular cataracts, drusen, keratitis, and pterygiums. Less intuitive overlaps involve neurological disorders such as hearing loss, cortical atrophy, ventricular dilatation, and impaired cognitive functions (Karass et al 2014). Given this broader array of phenotypes, some might conclude that XP might be better classified under segmental progeroid syndromes.…”

Section: Examples Of Unimodal Progeroid Syndromesmentioning

confidence: 99%

“…We now know that there are eight different genetic loci at which biallelic mutations are involved in such defective DNA repair. Seven of them (XPA through XPG) are the result of aberrations in nucleotide excision repair, while the eighth form is the result of mutations in DNA polymerase η, which is involved in translesion DNA synthesis (Karass et al 2014). …”

Section: Examples Of Unimodal Progeroid Syndromesmentioning

confidence: 99%

How Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend Initiative

Hisama

Oshima

Martin

2016

Cold Spring Harb Perspect Med

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Although translational applications derived from research on basic mechanisms of aging are likely to enhance healthspans and life spans for most of us (the longevity dividend), there will remain subsets of individuals with special vulnerabilities. Medical genetics is a discipline that describes such “private” patterns of aging and can reveal underlying mechanisms, many of which support genomic instability as a major mechanism of aging. We review examples of three classes of informative disorders: “segmental progeroid syndromes” (those that appear to accelerate multiple features of aging), “unimodal progeroid syndromes” (those that impact on a single disorder of aging) and “unimodal antigeroid syndromes,” variants that provide enhanced protection against specific disorders of aging; we urge our colleagues to expand our meager research efforts on the latter, including ancillary somatic cell genetic approaches.

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“…The prevalence of neurodegeneration varies across and even within the complementation groups and is most commonly associated with XPA and XPD, followed by XPB, XPG and XPF (Anttinen et al, ; Niedernhofer et al, ; Karass et al, ; Fassihi et al, ). Overall, in Europe and North America, approximately 25–30% of XP patients are affected by neurological impairment of variable severity.…”

Section: Introductionmentioning

confidence: 99%

Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms

Abeti

Zeitlberger

Peelo

et al. 2019

British J Pharmacology

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Xeroderma pigmentosum (XP) encompasses a group of rare diseases characterized in most cases by malfunction of nucleotide excision repair (NER), which results in an increased sensitivity to UV radiation in affected individuals. Approximately 25–30% of XP patients present with neurological symptoms, such as sensorineural deafness, mental deterioration and ataxia. Although it is known that dysfunctional DNA repair is the primary pathogenesis in XP, growing evidence suggests that mitochondrial pathophysiology may also occur. This appears to be secondary to dysfunctional NER but may contribute to the neurodegenerative process in these patients. The available pharmacological treatments in XP mostly target the dermal manifestations of the disease. In the present review, we outline how current understanding of the pathophysiology of XP could be used to develop novel therapies to counteract the neurological symptoms. Moreover, the coexistence of cancer and neurodegeneration present in XP led us to focus on possible new avenues targeting mitochondrial pathophysiology. Linked Articles This article is part of a themed section on Mitochondrial Pharmacology: Featured Mechanisms and Approaches for Therapy Translation. To view the other articles in this section visit http://onlinelibrary.wiley.com/doi/10.1111/bph.v176.22/issuetoc

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Xeroderma Pigmentosa: Three New Cases with an In Depth Review of the Genetic and Clinical Characteristics of the Disease

Cited by 24 publications

References 21 publications

Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing

Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing

How Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend Initiative

Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms

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