A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D

Bui, Chi‐Bao; Duong, Thao; Pham, Thuy T. T.; Vu, Tung Duy; Chau, Gia Cac; Vo, Thanh-Niem Van; Nguyen, Vinh Pham; Trinh, Dieu-Thuong Thi; Hoang, Minh Van

doi:10.1038/s41439-020-0089-z

Cited by 7 publications

(4 citation statements)

References 14 publications

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“…Patients also experience ocular damage, photophobia, and dry eyes. The fibroblasts in the Vietnamese cohort showed a defect in the NER pathway (1). The defect affects the DNA repair mechanism that occurs in XP, which renders it more sensitive to UVA radiation (21).…”

Section: Discussionmentioning

confidence: 99%

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Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum

Yuniati

Sihombing

Nauphar

et al. 2021

IRDR

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Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by hypersensitivity of the skin to ultraviolet radiation and other carcinogenic agents. This ailment is characterized by increased photosensitivity, skin xerosis, early skin aging, actinic keratosis, erythematous lesions, and hyperpigmentation macules. In this serial case report, we presented four cases with XP from two families in Indonesia. Both families were referred from rural referral health centers, and each family has two affected siblings. They had freckle-like pigmentation on the face, trunk, and extremities, which progressed since childhood. One patient of family 2 died because of an infectious disease. Histopathological examination using cytokeratine (CK), CD10, and Ber-EP4 staining from available tissue biopsy of one affected case of family 1 identified basal cell carcinoma (BCC) on the cheek and melanoma on the right eye. Mutation analysis found ERCC2, c2047C>T and XPC, c1941T>A in the first and second families, respectively. We suppose that this is the first case report of XP in Indonesia that incorporates clinical examination, genetic analysis, and extensive histopathological examination, including immunohistochemistry staining, and a novel pathogenic variant of XPC was found in the second family.

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Section: Discussionmentioning

confidence: 99%

“…Xeroderma pigmentosum (XP) is characterized by increased photosensitivity, skin xerosis, early skin aging, actinic keratosis, erythematous lesions, and hyperpigmentation macules (1,2). Another feature is abnormal lentiginosis (freckle-like pigmentation due to increased numbers of melanocytes) on sun-exposed areas.…”

Section: Introductionmentioning

confidence: 99%

Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum

Yuniati

Sihombing

Nauphar

et al. 2021

IRDR

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“…Clinical WES was described previously [ 56 ]. In brief, genomic DNA was extracted from peripheral blood using QIAamp DNA Blood Mini Kit (#51104, QIAGEN).…”

Section: Methodsmentioning

confidence: 99%

Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients

Ho,

Nguyen,

Van Hoang

et al. 2024

Hum Genomics

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Background Congenital ichthyosis (CI) is a collective group of rare hereditary skin disorders. Patients present with epidermal scaling, fissuring, chronic inflammation, and increased susceptibility to infections. Recently, there is increased interest in the skin microbiome; therefore, we hypothesized that CI patients likely exhibit an abnormal profile of epidermal microbes because of their various underlying skin barrier defects. Among recruited individuals of Southeast Asian ethnicity, we performed skin meta-genomics (i.e., whole-exome sequencing to capture the entire multi-kingdom profile, including fungi, protists, archaea, bacteria, and viruses), comparing 36 CI patients (representing seven subtypes) with that of 15 CI age-and gender-matched controls who had no family history of CI. Results This case–control study revealed 20 novel and 31 recurrent pathogenic variants. Microbiome meta-analysis showed distinct microbial populations, decreases in commensal microbiota, and higher colonization by pathogenic species associated with CI; these were correlated with increased production of inflammatory cytokines and Th17- and JAK/STAT-signaling pathways in peripheral blood mononuclear cells. In the wounds of CI patients, we identified specific changes in microbiota and alterations in inflammatory pathways, which are likely responsible for impaired wound healing. Conclusions Together, this research enhances our understanding of the microbiological, immunological, and molecular properties of CI and should provide critical information for improving therapeutic management of CI patients.

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“…Clinical WES was described previously [46]. In brief, genomic DNA was extracted from peripheral blood using QIAamp DNA Blood Mini Kit (#51104, QIAGEN).…”

Section: Methodsmentioning

confidence: 99%

Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients

Huynh

Hoang

et al. 2022

Preprint

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Cutaneous ichthyosis (CI) is a collective group of monogenetic disorders of cornification demonstrating epidermal scaling, fissuring, chronic skin inflammation, and increased susceptibility to infection. In healthy individuals the skin microbiome limits growth of pathogenic organisms; however, the microbiome signature in CI is poorly characterized. To rectify this, we investigated the microbiome signature across 7 subtypes of CI in 43 individuals of Southeast Asian ethnicity, of which exome sequencing revealed 20 novel and 31 recurrent pathogenic variants. Microbiome meta-analysis revealed distinct microbial populations, reduced commensal microbiota, and higher colonization by pathogenic species. This correlated with increased production of inflammatory cytokines, including Th17 and JAK/STAT signaling, in peripheral blood mononuclear cells. Moreover, we identified microbiota and inflammation alterations in wounds of CI patients responsible for impaired wound healing. Together, this research enhances our understanding of the microbiological, immunological, and molecular properties of CI patients and provides critical information for improving therapeutic management.

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A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D

Cited by 7 publications

References 14 publications

Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum

Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum

Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients

Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients

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