title: Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.
abstract: BACKGROUND
  Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by cutaneous and ocular photosensitivity and an increased risk of developing cutaneous neoplasms. Progressive neurological abnormalities develop in a quarter of XP patients.
  
  
  OBJECTIVE
  To study the clinical profile and perform a mutation analysis in Indian patients with xeroderma pigmentosum.
  
  
  METHODS
  Ten families with 13 patients with XP were referred to our clinic over 2 years. The genes XPA, XPB and XPC were sequentially analyzed till a pathogenic mutation was identified.
  
  
  RESULTS
  Homozygous mutations in the XPA gene were seen in patients with moderate to severe mental retardation (6/10 families) but not in those without neurological features. Two unrelated families with a common family name and belonging to the same community from Maharashtra were found to have an identical mutation in the XPA gene, namely c.335_338delTTATinsCATAAGAAA (p.F112SfsX2). Testing of the XPC gene in two families with four affected children led to the identification of the novel mutations c.1243C>T or p.R415X and c.1677C>A or p.Y559X. In two families, mutations could not be identified in XPA, XPB and XPC genes.
  
  
  CONCLUSIONS
  The sample size is small.
  
  
  CONCLUSIONS
  Indian patients who have neurological abnormalities associated with XP should be screened for mutations in the XPA gene.
authors.affiliation: ICMR Genetic Research Center, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai, India.
authors.forename: Parag M
authors.initials: PM
authors.lastname: Tamhankar
authors.forename: Shruti V
authors.initials: SV
authors.lastname: Iyer
authors.forename: Shyla
authors.initials: S
authors.lastname: Ravindran
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: Chitra
authors.initials: C
authors.lastname: Nayak
authors.forename: Mahendra
authors.initials: M
authors.lastname: Kura
authors.forename: Swapnil
authors.initials: S
authors.lastname: Sanghavi
authors.forename: Rajesh
authors.initials: R
authors.lastname: Joshi
authors.forename: Vasundhara Sridhar
authors.initials: VS
authors.lastname: Chennuri
authors.forename: Uday
authors.initials: U
authors.lastname: Khopkar
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007194:India; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D014983:Xeroderma Pigmentosum / Q000150:complications / Q000235:genetics*; D051760:Xeroderma Pigmentosum Group A Protein / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C497314:XPA protein, human; D051760:Xeroderma Pigmentosum Group A Protein; C072022:XPBC-ERCC-3 protein; C086984:XPC protein, human; D004265:DNA Helicases