Xeroderma pigmentosum Group D Patient Bearing Lentigo maligna without Neurological Symptoms

Fukuro, Shuhei; Yamaguchi, Jun; Mamada, Akira; Kondo, Seiji; Satoh, Yoshiaki

doi:10.1159/000247901

Cited by 13 publications

(6 citation statements)

References 6 publications

(11 reference statements)

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“…However,~ome group D cases in Europe have rather mIlder clinical manifestations (2,15). Eight Japanese group 0 cases including our case manifest mild or moderate cutaneous symptoms (solar sensitivity, freckling, pigment anomalies), compared with the group A patients (1,4,5,7).…”

Section: Discussionmentioning

confidence: 98%

“…By cell fusion complementation analysis we assigned patient XP85TO to complementation group D as the eighth]apanese case. Group D patients are infrequent in]apan (4,5,7,12,14), but common in Europe and the United States (1,2,4,7,12,14). Many of these group D patients~anifest severe dermatological, oph-thalmolOgIcal, and neurological symptoms that mimic those in the majority of group A patients (l).…”

Section: Discussionmentioning

confidence: 99%

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A Case of Xeroderma Pigmentosum Group D Determined by Photobiological Study

Ishii

Nakajima

Kondo

et al. 1991

The Journal of Dermatology

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A case of xeroderma pigmentosum group D in 36-year-old woman (XP85TO) is reported. The patient had severe photosensitivity from age 4, and developed multiple basal cell epitheliomas and solar keratoses but exhibited no apparent neurological defects. A skin phototest by monochromatic ultraviolet light revealed a delayed peak of erythema 48 h after irradiation and lowered minimal erythemal doses. Unscheduled DNA synthesis induced in XP85TO cells was 36.0% in dermal fibroblasts and 32.6% in epidermal keratinocytes compared with normal cells. The XP85TO cells were sensitive to ultraviolet killing (n = 1.0, D0 = 0.80 J/m2). In complementation analysis, XP85TO cells did not complement with xeroderma pigmentosum group D cells. These results indicate that patient XP85TO had xeroderma pigmentosum group D. The Japanese group D patients including XP85TO case showed delayed onset of skin malignant tumors and neurological abnormalities, compared with the group D patients in Europe and the United States. These findings suggest a possible ethnic variation of the clinical phenotype, despite the similar repair defect and ultraviolet hyperssensitivity.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

A Case of Xeroderma Pigmentosum Group D Determined by Photobiological Study

Ishii

Nakajima

Kondo

et al. 1991

The Journal of Dermatology

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“…It has been pointed out that there are some clinical differences between Japanese and white XP‐D individuals. Particularly severe neurological abnormalities were manifested in many XP‐D individuals in the white group, whereas most Japanese XP‐D individuals had no or only mild neurological abnormalities [Fukuro et al, 1990]. The difference of clinical manifestations between the two populations may have resulted from differences in the mutation sites of XPD .…”

Section: Discussionmentioning

confidence: 99%

“…XP59TO and XP77TO are primary fibroblast cell strains derived from Japanese XP‐D individuals [Fukuro et al, 1990]. CRL1160 (XP5BE), an XP‐D primary skin fibroblast cell strain, was obtained from the American Type Culture Collection (Rockville, MD).…”

Section: Methodsmentioning

confidence: 99%

Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: Confirmation of genotype‐phenotype correlation

et al. 2002

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Xeroderma pigmentosum (XP) is a sun-sensitive and cancer-prone genetic disorder consisting of seven genetically distinct complementation groups (groups A-G). XP group D (XP-D) is a heterogeneous group. Mutations in the XPD gene (XPD) can exhibit three distinct clinical phenotypes: XP, trichothiodystrophy (TTD), or XP combined with Cockayne syndrome. XPD protein is required for both nucleotide excision repair (NER) and basal transcription. Therefore, different mutations in XPD may affect NER and transcription activities to various degrees and result in such diverse phenotypes. In this study, we identified six causative mutations, two of which have not been described, in five XP-D cell strains tested. The cell strains were all compound heterozygotes with different mutations. In all cell strains, one allele was thought to be functionally null and the other was a less severe allele with R683W, R683Q, and R666W substitutions. The second allele in each strain was specific to the XP phenotype. The findings are consistent with the hypothesis that the site of mutation of the XPD gene determines the clinical phenotype, XP or TTD.

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“…All case reports in English and French were included; reports in other languages were included if the abstract was in either English or French. A total of 43 TTD, 9-22 37 XP, [23][24][25][26][27][28][29][30][31][32][33][34][35] six XP/TTD, 3,8 four XP/CS, [36][37][38] and 1 COFS/TTD 8 patient with defects in the XPD gene were identified and included in our study population.…”

Section: Methodsmentioning

confidence: 99%

Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta

et al. 2012

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Mutations in XPD (ERCC2), XPB (ERCC3), and TTD-A (GTF2H5), genes involved in nucleotide excision repair and transcription, can cause several disorders including trichothiodystrophy (TTD) and xeroderma pigmentosum (XP). In this study, we tested the hypothesis that mutations in the XPD gene affect placental development in a phenotype-specific manner. To test our hypothesis and decipher potential biologic mechanisms, we compared all XPD-associated TTD (n¼43) and XP (n¼37) cases reported in the literature with respect to frequencies of gestational complications. Our genetic epidemiologic investigations of TTD and XP revealed that the exact genetic abnormality was relevant to the mechanism leading to gestational complications such as preeclampsia. Through structural mapping, we localized the preeclampsia-associated mutations to a C-terminal motif and the helicase surfaces of XPD, most likely affecting XPD's binding to cdk-activating kinase (CAK) and p44 subunits of transcription factor (TF) IIH. Our results suggested a link between TTD-but not XP-associated XPD mutations, placental maldevelopment and risk of pregnancy complications, possibly due to impairment of TFIIH-mediated functions in placenta. Our findings highlight the importance of the fetal genotype in development of gestational complications, such as preeclampsia. Therefore, future studies of genetic associations of preeclampsia and other placental vascular complications may benefit from focusing on genetic variants within the fetal DNA.

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Xeroderma pigmentosum Group D Patient Bearing Lentigo maligna without Neurological Symptoms

Cited by 13 publications

References 6 publications

A Case of Xeroderma Pigmentosum Group D Determined by Photobiological Study

A Case of Xeroderma Pigmentosum Group D Determined by Photobiological Study

Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: Confirmation of genotype‐phenotype correlation

Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta

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