Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review

BMC Medical Genetics

Qingtao Kong¹  Rui Yang¹  Hong Sang¹  Weiwei Li²  Yuanyuan Duan³ 

[1] Department of Dermatology, Jinling Hospital, Nanjing University, School of Medicine;Department of Reproduction and Genetics, Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine;Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College;

关键词: Xeroderma pigmentosum;    DDB2 gene;    Novel mutation;    Skin cancer;    Case report;   

DOI  :  10.1186/s12881-020-00997-0

来源: DOAJ

【 摘 要 】

Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of XP (XP-A to G and a variant form). XP-E is one of the least common forms, and XP-E patients are generally not diagnosed until they are adults due to a later onset of skin alterations. Case presentation We report a case of a 28-year-old Chinese woman with freckle-like hyperpigmented macules in a sun-exposed area who is prone to develop basal cell carcinomas. A genetic study revealed a novel homozygous c.111_112del deletion in exon 1 of the DDB2 gene. Western blotting analysis revealed that the patient lacked the expression of the wild-type mature DDB2 protein. The proband was first diagnosed with XPE on the basis of clinical findings and genetic testing. Sun protection was recommended, and the patient did not develop any skin cancers during the one-year follow-up. Conclusions We identified a novel homozygous deletion in DDB2 gene in Chinese XP-E patients having unique clinical features.

【 授权许可】

Unknown