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Year : 2015  |  Volume : 81  |  Issue : 1  |  Page : 16--22

Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients

1 ICMR Genetic Research Center, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai, India
2 Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
3 Department of Dermatology, BYL Nair Ch. Hospital and T. N. Medical College, Mumbai Central, India
4 Department of Dermatology, Grant Medical College and Sir JJ Hospital Group of Hospitals, Byculla, India
5 Department of Dermatology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India
6 Department of Pediatrics, BJ Wadia Hospital for Children, Parel, Mumbai, India
7 Department of Pediatrics, ESIS Hospital, Thane, Employees State Insurance Scheme Hospital, India

Correspondence Address:
Dr. Parag M Tamhankar
Scientist 'D', ICMR Genetic Research Centre, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai - 400 012
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Source of Support: The molecular tests for all patients (except for patient id 9) was funded by the core funding at Genetic Research Center, Conflict of Interest: None

DOI: 10.4103/0378-6323.148559

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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. Aim: 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. Limitation: The sample size is small. Conclusion: Indian patients who have neurological abnormalities associated with XP should be screened for mutations in the XPA gene.


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