Novel Mutations in TACSTD2 Gene in Families with Gelatinous Drop-like Corneal Dystrophy (GDLD)

• Published in: International journal of molecular and cellular medicine Vol. 6; no. 4; pp. 204 - 211
• Main Authors: Alehabib, Elham, Jamshidi, Javad, Ghaedi, Hamid, Emamalizadeh, Babak, Andarva, Monavvar, Daftarian, Narsis, Rezaei Kanavi, Mozhgan, Mohammadi Torbati, Peyman, Espandar, Goldis, Alinaghi, Somayeh, Johari, Amir Hossein, Saghally, Mansoor, Mohajerani, Fatemeh, Darvish, Hossein
• Format: Journal Article
• Language: English
• Published: Iran Babol University of Medical Sciences 2017
• Subjects: Algorithms; Bioinformatics; Colorectal cancer; Cornea; Eye examinations; Genes; Microscopy; Mutation; Original; Patients; Iran; United States > US; Japan; GDLD; TACSTD; Iranian; corneal dystrophy; Gelatinous drop-like
• ISSN: 2251-9637; 2251-9645
• DOI: 10.22088/BUMS.6.4.204

In the current study, we conducted a mutation screening of tumor-associated calcium signal transducer 2 ( ) gene in six consanguineous Iranian families with gelatinous drop-like corneal dystrophy (GDLD), in order to find the causative mutations. Detailed eye examination was performed by ophthalmologist to confirm GDLD in patients. To detect the possible mutations, direct Sanger sequencing was performed for the only exon of gene, and its boundary regions in all patients. In the patients with GDLD, the corneal surface showed lesions with different shapes from mild to severe forms depending on the progress of the disease. The patients showed grayish corneal deposits as a typical mulberry form, corneal dystrophy along with corneal lipid deposition, and vascularization. Targeted Sanger sequencing in gene revealed the causative mutations in this gene in all studied families. Our study expanded the mutational spectrum of which along with the related symptoms could help with the diagnosis, and management of the disease.