Assignment of 2 patients with xeroderma pigmentosum to complementation group E

Fujiwara, Yoshisada; Uehara, Yoshihiko; Ichihashi, Masamitsu; Yamamoto, Yoko; Nishioka, Kazue

doi:10.1016/0167-8817(85)90040-9

Cited by 19 publications

(14 citation statements)

References 17 publications

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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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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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“…Most of the group D patients in the West manifest severe dermatological, ophthalmological and neurological symptoms that are almost equiva lent to those observed in the majority of group A patients [ 1,8,9]. Table 1 shows the characteristics of the 8 Japa nese group D cases [10][11][12][13][14][15]. All of them manifest mild or moderate cutaneous symptoms compared with those in group A [1,10].…”

Section: Discussionmentioning

confidence: 99%

“…17,18]. Only 3 out of 8 Japanese XP-D patients had slight or borderline levels of neurological abnormalities (audio metric sensorineural deafness in XP77TO [ 13] and bor derline changes in audiogram and electroencephalogram in XP58TO and XP59TO siblings [11]). while others including XP114TO are neurologically normal.…”

Section: Discussionmentioning

confidence: 99%

Xeroderma pigmentosum Group D Patient Bearing Lentigo maligna without Neurological Symptoms

et al. 1990

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A 35-year-old Japanese female patient with xeroderma pigmentosum (XP), registered as XP114TO, was assigned to complementation group D by the cell fusion complementation test. The patient had manifested moderate solar sensitivity and freckles by the age of 6 years. The skin phototest using 290- and 300-nm monochromatic ultraviolet (UV) light revealed slightly lowered minimal erythema doses at 24 h after irradiation. The XP114TO skin fibroblasts exhibited about the 6-fold higher sensitivity to the lethal effect of 254-nm UV as did normal cells. Unscheduled DNA synthesis (UDS) induced in XP114TO cells by 254-nm UV (10 J/m²) was 33% of normal, falling into the group D range of 25–50% UDS. The patient developed lentigo maligna on the right side of the nose. Unlike the typical XP group D cases in the West, she showed no neurological abnormalities.

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“…For the complementation analysis, we employed our previous method which easily identifies fused heterodikaryons and homodikaryons by differential latex-bead labeling (3,12,13).…”

Section: Complementation Testmentioning

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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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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Assignment of 2 patients with xeroderma pigmentosum to complementation group E

Cited by 19 publications

References 17 publications

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

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

Xeroderma pigmentosum Group D Patient Bearing Lentigo maligna without Neurological Symptoms

A Case of Xeroderma Pigmentosum Group D Determined by Photobiological Study

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