Identification of DKC1 Gene Mutation in an Indian Patient

Dyskeratosis congenita-X-linked variety was diagnosed in a twelve year old male child with cutaneous pigmentary changes and dystrophic changes in nails of hands and feet. His elder brother had similar nail changes and had died at twelve yr of age. We demonstrated the A353V mutation in the proband after sequencing the DKC1 gene. The mother was found to be carrier for the same mutation. She did not have any clinical manifestations. This is the commonest mutation worldwide responsible for X-linked variety of this disease and has been demonstrated for the first time in an native Indian patient. [Indian J Pediatr 2010; 77 (3) : 310-312] E-mail: shubha@sgpgi.ac.in