1,123
Views
9
CrossRef citations to date
0
Altmetric
Short Communication

Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

, , , , , & show all
Article: e24932 | Received 15 Feb 2013, Accepted 03 May 2013, Published online: 06 May 2013

References

  • Liang C, Kraemer KH, Morris A, Schiffmann R, Price VH, Menefee E, et al. Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy. J Am Acad Dermatol 2005; 52:224 - 32; http://dx.doi.org/10.1016/j.jaad.2004.09.013; PMID: 15692466
  • Sperling LC, DiGiovanna JJ. “Curly” wood and tiger tails: an explanation for light and dark banding with polarization in trichothiodystrophy. Arch Dermatol 2003; 139:1189 - 92; http://dx.doi.org/10.1001/archderm.139.9.1189; PMID: 12975162
  • Natale V. A comprehensive description of the severity groups in Cockayne syndrome. Am J Med Genet A 2011; 155A:1081 - 95; http://dx.doi.org/10.1002/ajmg.a.33933; PMID: 21480477
  • Broughton BC, Berneburg M, Fawcett H, Taylor EM, Arlett CF, Nardo T, et al. Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Hum Mol Genet 2001; 10:2539 - 47; http://dx.doi.org/10.1093/hmg/10.22.2539; PMID: 11709541
  • Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, et al. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum Mutat 2008; 29:1194 - 208; http://dx.doi.org/10.1002/humu.20768; PMID: 18470933
  • Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience 2007; 145:1388 - 96; http://dx.doi.org/10.1016/j.neuroscience.2006.12.020; PMID: 17276014
  • Faghri S, Tamura D, Kraemer KH, Digiovanna JJ. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. J Med Genet 2008; 45:609 - 21; http://dx.doi.org/10.1136/jmg.2008.058743; PMID: 18603627
  • Itin PH, Sarasin A, Pittelkow MR. Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol 2001; 44:891 - 920, quiz 921-4; http://dx.doi.org/10.1067/mjd.2001.114294; PMID: 11369901
  • Botta E, Nardo T, Lehmann AR, Egly JM, Pedrini AM, Stefanini M. Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. Hum Mol Genet 2002; 11:2919 - 28; http://dx.doi.org/10.1093/hmg/11.23.2919; PMID: 12393803
  • Vermeulen W, Rademakers S, Jaspers NG, Appeldoorn E, Raams A, Klein B, et al. A temperature-sensitive disorder in basal transcription and DNA repair in humans. Nat Genet 2001; 27:299 - 303; http://dx.doi.org/10.1038/85864; PMID: 11242112
  • Takayama K, Danks DM, Salazar EP, Cleaver JE, Weber CA. DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. Hum Mutat 1997; 9:519 - 25; http://dx.doi.org/10.1002/(SICI)1098-1004(1997)9:6<519::AID-HUMU4>3.0.CO;2-X; PMID: 9195225
  • de Boer J, de Wit J, van Steeg H, Berg RJ, Morreau H, Visser P, et al. A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. Mol Cell 1998; 1:981 - 90; http://dx.doi.org/10.1016/S1097-2765(00)80098-2; PMID: 9651581
  • Ueda T, Compe E, Catez P, Kraemer KH, Egly JM. Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients. J Exp Med 2009; 206:3031 - 46; http://dx.doi.org/10.1084/jem.20091892; PMID: 19934020
  • Sato H, Saito T, Kurosawa K, Ootaka T, Furuyama T, Yoshinaga K. Renal lesions in Cockayne’s syndrome. Clin Nephrol 1988; 29:206 - 9; PMID: 3365865
  • Brooks BP, Thompson AH, Clayton JA, Chan CC, Tamura D, Zein WM, et al. Ocular manifestations of trichothiodystrophy. Ophthalmology 2011; 118:2335 - 42; http://dx.doi.org/10.1016/j.ophtha.2011.05.036; PMID: 21959366
  • Jaspers NG, Raams A, Silengo MC, Wijgers N, Niedernhofer LJ, Robinson AR, et al. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. Am J Hum Genet 2007; 80:457 - 66; http://dx.doi.org/10.1086/512486; PMID: 17273966
  • Limsirichaikul S, Niimi A, Fawcett H, Lehmann A, Yamashita S, Ogi T. A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU). Nucleic Acids Res 2009; 37:e31; http://dx.doi.org/10.1093/nar/gkp023; PMID: 19179371
  • Nakazawa Y, Yamashita S, Lehmann AR, Ogi T. A semi-automated non-radioactive system for measuring recovery of RNA synthesis and unscheduled DNA synthesis using ethynyluracil derivatives. DNA Repair (Amst) 2010; 9:506 - 16; http://dx.doi.org/10.1016/j.dnarep.2010.01.015; PMID: 20171149
  • Jaspers NG, Raams A, Kelner MJ, Ng JM, Yamashita YM, Takeda S, et al. Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways. DNA Repair (Amst) 2002; 1:1027 - 38; http://dx.doi.org/10.1016/S1568-7864(02)00166-0; PMID: 12531012