• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Leu461Val (c.1381C>G); ClinVar=VCV000016779; Zygosity=Heterozygous (PubMed=8571952).
  
• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ala717Gly (c.2150C>G) (p.Val716_Arg730del); ClinVar=VCV000134102; Zygosity=Heterozygous; Note=Creates a cryptic donor splice site (PubMed=8571952).
  
• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg722Trp (c.2164C>T); ClinVar=VCV000016792; Zygosity=Heterozygous (PubMed=8571952).
  

PubMed=1281671; DOI=10.1111/j.1365-2133.1992.tb14845.x
Alain Sarasin, Claudine Blanchet-Bardon, Georges Renault, Alan R. Lehmann, Colin Francis Arlett, Yves Dumez;
Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair.
Br. J. Dermatol. 127:485-491(1992)

PubMed=8055625; DOI=10.1093/carcin/15.8.1493
Mauro Mezzina, Eric Eveno, Odile Chevallier-Lagente, Annie Benoit, Madeleine Carreau, Wim Vermeulen, Jan Hendrik Jozef Hoeijmakers, Miria Stefanini, Alan R. Lehmann, Christine A. Weber, Alain Sarasin;
Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells.
Carcinogenesis 15:1493-1498(1994)

PubMed=7671243
Eric Eveno, Francois Bourre, Xavier Quilliet, Odile Chevallier-Lagente, Len Roza, Andre P.M. Eker, Wim J. Kleijer, Osamu Nikaido, Miria Stefanini, Jan Hendrik Jozef Hoeijmakers, Dirk Bootsma ...Show all 14 authors... , James Edward Cleaver, Alain Sarasin, Mauro Mezzina; Show fewer authors
Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases.
Cancer Res. 55:4325-4332(1995)

PubMed=8824772; DOI=10.1016/0300-9084(95)90011-x
Eric Eveno, Xavier Quilliet, Odile Chevallier-Lagente, Leela Daya-Grosjean, Anne Stary, Lin Zeng, Annie Benoit, Elena Savini, Giovanni Ciarrocchi, Patricia Kannouche, Bernard Salles ...Show all 13 authors... , Alain Sarasin, Mauro Mezzina; Show fewer authors
Stable SV40-transformation and characterisation of some DNA repair properties of fibroblasts from a trichothiodystrophy patient.
Biochimie 77:906-912(1995)

PubMed=8571952; PMCID=PMC1914548
Kyoko Takayama, Edmund P. Salazar, Bernard C. Broughton, Alan R. Lehmann, Alain Sarasin, Lawrence H. Thompson, Christine A. Weber;
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
Am. J. Hum. Genet. 58:263-270(1996)

PubMed=15009740; DOI=10.1046/j.0022-202X.2004.22226.x
Yoko Nishiwaki, Nobuhiko Kobayashi, Kyoko Imoto, Taka-aki Iwamoto, Aya Yamamoto, Sachiko Katsumi, Toshihiko Shirai, Shigeki Sugiura, Yu Nakamura, Alain Sarasin, Sachiko Miyagawa, Toshio Mori;
Trichothiodystrophy fibroblasts are deficient in the repair of ultraviolet-induced cyclobutane pyrimidine dimers and (6-4)photoproducts.
J. Invest. Dermatol. 122:526-532(2004)

PubMed=18470933; DOI=10.1002/humu.20768; PMCID=PMC3477783
Jennifer Boyle, Takahiro Ueda, Kyu-Seon Oh, Kyoko Imoto, Deborah Tamura, Jared Jagdeo, Sikandar G. Khan, Carine Nadem, John Joseph DiGiovanna, Kenneth H. Kraemer;
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. 29:1194-1208(2008)

PubMed=18676829; DOI=10.1158/0008-5472.CAN-07-6695
Vanessa Chigancas, Keronninn Morino de Lima-Bessa, Anne Stary, Carlos Frederico Martins Menck, Alain Sarasin;
Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome.
Cancer Res. 68:6074-6083(2008)