Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy
Preeti Paliwal, Jaya Gupta, Radhika Tandon, Namrata Sharma, Jeewan S Titiyal, Seema Kashyap, Seema Sen, Punit Kaur, Divya Dube, Arundhati Sharma, Rasik B Vajpayee
MOLECULAR VISION | MOLECULAR VISION | Published : 2010
PURPOSE: To study the clinical, histological, in vivo confocal microscopic, and molecular profile in a family with gelatinous drop-like corneal dystrophy (GDLD) from north India. METHODS: Two siblings from a consanguineous family presented with clinical features analogous to GDLD. Detailed clinical evaluations were performed for all the available affected and unaffected members of this family. In vivo confocal microscopy and histology was done wherever necessary. DNA isolated from peripheral blood samples was subjected to polymerase chain reaction (PCR) followed by direct sequencing to detect mutations in the tumor-associated calcium signal transducer 2 (TACSTD2) gene. Protein modeling studi..View full abstract
The authors acknowledge the contribution of Ms. Meena Verma posted in the Cornea Research Lab, RPC, AIIMS in capturing the confoscan images. The study was supported by a financial grant provided by the Department of Biotechnology (DBT), India. Financial assistance from the Indian Council of Medical Research (ICMR) to the Bio-Medical Informatics Centre, AIIMS is acknowledged. Preeti Paliwal is a recipient of the Senior Research Fellowship from Council of Scientific and Industrial research (CSIR), India. The article was presented in part at the biennial Asia ARVO, January 2009 in Hyderabad, India.