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XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME

MedGen UID:
864477
•Concept ID:
C4016040
•
Finding
OMIM®: 133530

Professional guidelines

PubMed

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.
Drury S, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH
Am J Med Genet A 2014 Jul;164A(7):1777-83. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36506. PMID: 24700531

Recent clinical studies

Etiology

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.
Drury S, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH
Am J Med Genet A 2014 Jul;164A(7):1777-83. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36506. PMID: 24700531
Lack of CAK complex accumulation at DNA damage sites in XP-B and XP-B/CS fibroblasts reveals differential regulation of CAK anchoring to core TFIIH by XPB and XPD helicases during nucleotide excision repair.
Zhu Q, Wani G, Sharma N, Wani A
DNA Repair (Amst) 2012 Dec 1;11(12):942-50. Epub 2012 Oct 17 doi: 10.1016/j.dnarep.2012.09.003. PMID: 23083890Free PMC Article
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.
Lalle P, Nouspikel T, Constantinou A, Thorel F, Clarkson SG
J Invest Dermatol 2002 Feb;118(2):344-51. doi: 10.1046/j.0022-202x.2001.01673.x. PMID: 11841555
Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigree.
Okinaka RT, Perez-Castro AV, Sena A, Laubscher K, Strniste GF, Park MS, Hernandez R, MacInnes MA, Kraemer KH
Mutat Res 1997 Nov;385(2):107-14. doi: 10.1016/s0921-8777(97)00031-1. PMID: 9447232

Diagnosis

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.
Drury S, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH
Am J Med Genet A 2014 Jul;164A(7):1777-83. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36506. PMID: 24700531
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.
Lalle P, Nouspikel T, Constantinou A, Thorel F, Clarkson SG
J Invest Dermatol 2002 Feb;118(2):344-51. doi: 10.1046/j.0022-202x.2001.01673.x. PMID: 11841555

Therapy

Lack of CAK complex accumulation at DNA damage sites in XP-B and XP-B/CS fibroblasts reveals differential regulation of CAK anchoring to core TFIIH by XPB and XPD helicases during nucleotide excision repair.
Zhu Q, Wani G, Sharma N, Wani A
DNA Repair (Amst) 2012 Dec 1;11(12):942-50. Epub 2012 Oct 17 doi: 10.1016/j.dnarep.2012.09.003. PMID: 23083890Free PMC Article

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