title: Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.
abstract: BACKGROUND
  Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by extreme sensitivity to sunlight, freckle-like pigmentation and a greatly increased incidence of skin cancers. Genetic mutation detection and genotype-phenotype analysis of XP are rarely reported in the Chinese Han population.
  
  
  OBJECTIVE
  To investigate the mutational spectrum of XP in a Chinese Han population, to discover any genotype-phenotype correlation and, consequently, to propose a simple and effective tool for the molecular diagnosis of XP.
  
  
  METHODS
  This study was carried out on 12 unrelated Chinese families that included 13 patients with clinically suspected XP. Genomic DNA was extracted from peripheral blood samples. Mutation screening was performed by direct sequencing of exons and flanking intron-exon boundaries for the entire coding region of eight XP genes.
  
  
  RESULTS
  In 12 patients, direct sequencing of the whole coding region of eight XP genes revealed pathogenic mutations, including seven compound heterozygous mutations, three homozygous mutations and a Japanese founder mutation. Thirteen mutations have not been previously identified. This cohort was composed of four patients with XP-C (XPC), two with XP-G (ERCC5), three with XP-A (XPA) and three with XP-V (POLH).
  
  
  CONCLUSIONS
  This study identified 13 novel mutations and extended the mutation spectrum of XP in the Chinese Han population. In this cohort, we found that patients with XP-G have no neurological symptoms, and patients with XP-A and XP-V have a high incidence of malignancy. Furthermore, lack of stringent protection against sunlight, late diagnosis and long duration of disease play an important role.
authors.affiliation: Department of Dermatology, Fengxian Institute of Dermatosis Prevention, Shanghai, China; Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Sun
authors.forename: J
authors.initials: J
authors.lastname: Zhang
authors.forename: Y
authors.initials: Y
authors.lastname: Guo
authors.forename: C
authors.initials: C
authors.lastname: Ni
authors.forename: J
authors.initials: J
authors.lastname: Liang
authors.forename: R
authors.initials: R
authors.lastname: Cheng
authors.forename: M
authors.initials: M
authors.lastname: Li
authors.forename: Z
authors.initials: Z
authors.lastname: Yao
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D014983:Xeroderma Pigmentosum / Q000235:genetics*; D051760:Xeroderma Pigmentosum Group A Protein / Q000235:genetics*; D055815:Young Adult
chemical_list: C497314:XPA protein, human; D051760:Xeroderma Pigmentosum Group A Protein