Identification of DKC1 gene mutation in an indian patient.
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Date
2010-03
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Abstract
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.
Description
Keywords
Dyskeratosis congenita, Aplastic anemia, DKC1
Citation
Tamhankar Parag M, Zhao Meina, Kanegane Hirokazu, Phadke Shubha R. Identification of DKC1 gene mutation in an indian patient. Indian Journal of Pediatrics. 2010 Mar; 77(3): 310-312.