Characterisation of a novel missense mutation in the ERCC5 gene leading to group G xeroderma pigmentosum/Cockayne syndrome overlap

被引：0

作者：

Stehnach, William Christopher ^{[1
]}

Cantor, Aaron ^{[2
]}

Bongiorno, Michelle ^{[3
]}

机构：

[1] Edward Via Coll Osteopath Med, Grad Med Educ, Virginia Campus, Blacksburg, VA USA

[2] Naval Med Ctr Portsmouth, Dermatol, Portsmouth, VA USA

[3] Walter Reed Natl Mil Med Ctr, Bethesda, MD 20814 USA

来源：

BMJ CASE REPORTS | 2023年 / 16卷 / 10期

关键词：

Dermatology; General practice / family medicine; Dermatological; Skin cancer; Paediatrics; EXCISION-REPAIR; TFIIH; TRANSCRIPTION;

D O I：

10.1136/bcr-2022-253358

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Xeroderma pigmentosum-Cockayne syndrome complex (XP-CS) is exceedingly rare, with 43 cases described over the past five decades; 21 of these cases exhibited mutations in the ERCC5 endonuclease associated with xeroderma pigmentosum, group G.We report the first known phenotypic characterisation of the homozygous chromosome 13 ERCC5, Exon 11, c.2413G>A (p.Gly805Arg) missense mutation in a female toddler presenting with findings of both XP and CS.Her severe presentation also questions previous hypotheses that only truncating mutations and early missense mutations of XPG are capable of producing the dire findings of XP-CS.

引用

页数：3

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