Stehnach William Christopher, Cantor Aaron, Bongiorno Michelle
Graduate Medical Education, Edward Via College of Osteopathic Medicine, Virginia Campus, Blacksburg, Virginia, USA.
Dermatology, Naval Medical Center Portsmouth, Portsmouth, Virginia, USA.
BMJ Case Rep. 2023 Oct 17;16(10):e253358. doi: 10.1136/bcr-2022-253358.
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 , 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.
着色性干皮病-科凯恩综合征复合体（XP-CS）极为罕见，在过去五十年中仅有43例报道；其中21例在与着色性干皮病G组相关的ERCC5核酸内切酶中出现突变。我们报告了首例已知的纯合子13号染色体外显子11的c.2413G>A（p.Gly805Arg）错义突变的表型特征，该突变发生在一名同时出现XP和CS症状的女童身上。她的严重症状也对之前的假说提出了质疑，即只有XPG的截短突变和早期错义突变才能够导致XP-CS的严重症状。
