Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients

Abstract

Indian patients who have neurological abnormalities associated with XP should be screened for mutations in the XPA gene.

Clinical and genetic characteristics of xeroderma pigmentosum in Nepal

“…In contrast, informed patients who benefit from early diagnosis, complete solar protection and access to preventive or early treatment of cancers may have a considerably improved prognosis and quality of life . In the best conditions, genetic analyses may be proposed to patients and families, allowing presymptomatic diagnosis of affected infants as well as antenatal diagnosis and/or counselling for future pregnancy planning …”

“…1,9 In the best conditions, genetic analyses may be proposed to patients and families, allowing presymptomatic diagnosis of affected infants as well as antenatal diagnosis and/or counselling for future pregnancy planning. [11][12][13][14] To our knowledge, no study or case reports on XP in Nepal have been published. Prevalent mutations responsible for the disease in Himalayan regions are unknown.…”

Current status of genodermatoses: An Indian perspective

“…This obviously facilitates the prognostication of patients. [7] They also found founder mutation in two unrelated families, which is very likely given the socio-epidemiological characteristics of the Indian population. The identification of the mutation can facilitate the screening for a carrier state in such high risk communities.…”

“…Further, it is significant that in two families no mutation was identified in the XPA, B, and C gene that was being analyzed. [7] This emphasizes the need to analyze the other complementation groups and the difficulties inherent to any initial attempts at generating mutation analysis data in the Indian context.…”

Multiple cutaneous malignancies in a child with xeroderma pigmentosum: A case report

“…[2] Nucleotide excision repair defect is known to be the basic defect leading to defective repair of DNA damaged by UV radiation. [3]…”