scholarly journals Identification of a Novel Nonsense Mutation in POLH in a Chinese Pedigree with Xeroderma Pigmentosum, Variant Type

2013 ◽  
Vol 10 (6) ◽  
pp. 766-770 ◽  
Author(s):  
Xiaoyan Liu ◽  
Xianning Zhang ◽  
Jianjun Qiao ◽  
Hong Fang
Keyword(s):  
Nonsense Mutation ◽  
Xeroderma Pigmentosum ◽  
Variant Type

scholarly journals A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Chi-Bao Bui ◽  
Thao Thi Phuong Duong ◽  
Vien The Tran ◽  
Thuy Thanh T. Pham ◽  
Tung Vu ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Xeroderma Pigmentosum ◽  
Excision Repair ◽  
Critical Role ◽  
Family Members ◽  
Dna Helicase ◽  
Compound Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Sun Sensitivity ◽  
Group D

AbstractXeroderma pigmentosum (XP) group D, a severe disease often typified by extreme sun sensitivity, can be caused by ERCC2 mutations. ERCC2 encodes an adenosine triphosphate (ATP)-dependent DNA helicase, namely XP group D protein (XPD). The XPD, one of ten subunits of the transcription factor TFIIH, plays a critical role in the nucleotide-excision repair (NER) pathway. Mutations in XPD that affect the NER pathway can lead to neurological degeneration and skin cancer, which are the most common causes of death in XP patients. Here, we present detailed phenotypic information on a Vietnamese family in which four members were affected by XP with extreme sun sensitivity. Genomic analysis revealed a compound heterozygous mutation of ERCC2 that affected family members and single heterozygous mutations in unaffected family members. We identified a novel, nonsense mutation in one allele of ERCC2 (c.1354C > T, p.Q452X) and a known missense mutation in the other allele (c.2048G > A, p.R683Q). Fibroblasts isolated from the compound heterozygous subject also failed to recover from UV-driven DNA damage, thus recapitulating aspects of XP syndrome in vitro. We describe a novel ERCC2 variant that leads to the breakdown of the NER pathway across generations of a family presenting with severe XP.

Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type

2008 ◽  
Vol 52 (2) ◽  
pp. 144-148 ◽  
Author(s):  
Taro Masaki ◽  
Ryusuke Ono ◽  
Miki Tanioka ◽  
Yoko Funasaka ◽  
Tohru Nagano ◽  
...  
Keyword(s):  
Xeroderma Pigmentosum ◽  
Japanese Patients ◽  
Founder Mutations ◽  
Variant Type

Three school-age cases of xeroderma pigmentosum variant type

2013 ◽  
Vol 29 (3) ◽  
pp. 132-139 ◽  
Author(s):  
Ryusuke Ono ◽  
Taro Masaki ◽  
Seiji Takeuchi ◽  
Ayako Shimizu ◽  
Miki Tanioka ◽  
...  
Keyword(s):  
Xeroderma Pigmentosum ◽  
School Age ◽  
Variant Type

Angiosarcoma arising on the scalp in a Korean patient with xeroderma pigmentosum variant type

2018 ◽  
Vol 34 (5) ◽  
pp. 343-346 ◽  
Author(s):  
Won Jin Hong ◽  
Sang Eun Lee ◽  
Mi Ryung Roh ◽  
Jee Eun Kim ◽  
Chikako Nishigori ◽  
...  
Keyword(s):  
Xeroderma Pigmentosum ◽  
Korean Patient ◽  
Variant Type

scholarly journals Molecular Analysis of DNA Polymerase Eta Gene in Japanese Patients Diagnosed as Xeroderma Pigmentosum Variant Type

2007 ◽  
Vol 127 (7) ◽  
pp. 1745-1751 ◽  
Author(s):  
Miki Tanioka ◽  
Taro Masaki ◽  
Ryusuke Ono ◽  
Tohru Nagano ◽  
Eriko Otoshi-Honda ◽  
...  
Keyword(s):  
Dna Polymerase ◽  
Molecular Analysis ◽  
Xeroderma Pigmentosum ◽  
Japanese Patients ◽  
Variant Type ◽  
Polymerase Eta ◽  
Dna Polymerase Eta

scholarly journals Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early‐onset dementia

2020 ◽  
Vol 8 (11) ◽  
Author(s):  
Izadora Fonseca Zaiden Soares ◽  
Denise Maria Christofolini ◽  
Lis Gomes Silva ◽  
David Feder ◽  
Alzira Alves Siqueira Carvalho
Keyword(s):  
Early Onset ◽  
Xeroderma Pigmentosum ◽  
Complex Phenotype ◽  
Early Onset Dementia ◽  
Variant Type ◽  
Novel Variants

A nonsense mutation in the Xeroderma pigmentosum complementation group F (XPF) gene is associated with gastric carcinogenesis

Gene ◽  
2014 ◽  
Vol 537 (2) ◽  
pp. 238-244 ◽  
Author(s):  
Zhong-Hua Wei ◽  
Wen-Huan Guo ◽  
Jun Wu ◽  
Wen-Hao Suo ◽  
Guo-Hui Fu
Keyword(s):  
Nonsense Mutation ◽  
Xeroderma Pigmentosum ◽  
Gastric Carcinogenesis ◽  
Complementation Group
Sign in / Sign up

Export Citation Format

Share Document