• 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
Sarasin A., Blanchet-Bardon C., Renault G., Lehmann A.R., Arlett C.F., Dumez Y.
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
Mezzina M., Eveno E., Chevallier-Lagente O., Benoit A., Carreau M., Vermeulen W., Hoeijmakers J.H.J., Stefanini M., Lehmann A.R., Weber C.A., Sarasin A.
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
Eveno E., Bourre F., Quilliet X., Chevallier-Lagente O., Roza L., Eker A.P.M., Kleijer W.J., Nikaido O., Stefanini M., Hoeijmakers J.H.J., Bootsma D., Cleaver J.E., Sarasin A., Mezzina M.
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
Eveno E., Quilliet X., Chevallier-Lagente O., Daya-Grosjean L., Stary A., Zeng L., Benoit A., Savini E., Ciarrocchi G., Kannouche P., Salles B., Sarasin A., Mezzina M.
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
Takayama K., Salazar E.P., Broughton B.C., Lehmann A.R., Sarasin A., Thompson L.H., Weber C.A.
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
Nishiwaki Y., Kobayashi N., Imoto K., Iwamoto T.-a., Yamamoto A., Katsumi S., Shirai T., Sugiura S., Nakamura Y., Sarasin A., Miyagawa S., Mori T.
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
Boyle J., Ueda T., Oh K.-S., Imoto K., Tamura D., Jagdeo J., Khan S.G., Nadem C., DiGiovanna J.J., Kraemer K.H.
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
Chigancas V., de Lima-Bessa K.M., Stary A., Menck C.F.M., Sarasin A.
Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome.
Cancer Res. 68:6074-6083(2008)