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:: Volume 6, Issue 4 (Int J Mol Cell Med 2017) ::
Int J Mol Cell Med 2017, 6(4): 204-211 Back to browse issues page
Novel Mutations in TACSTD2 Gene in Families with Gelatinous Drop-like Corneal Dystrophy (GDLD)
Elham Alehabib1, Javad Jamshidi2, Hamid Ghaedi1, Babak Emamalizadeh3, Monavvar Andarva1, Narsis Daftarian4, Mozhgan Rezaei Kanavi4, Peyman Mohammadi Torbati5, Goldis Espandar5, Somayeh Alinaghi1, Amir Hossein Johari1, Mansoor Saghally1, Fatemeh Mohajerani1, Hossein Darvish 6
1- Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
2- Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran
3- Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
4- Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
5- Department of Pathology, Labbafi-Nezhad Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
6- Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. , darvish_mg@sbmu.ac.ir
Abstract:   (3277 Views)
In the current study, we conducted a mutation screening of tumor-associated calcium signal transducer 2 (TACSTD2) 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 TACSTD2 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 TACSTD2 gene revealed the causative mutations in this gene in all studied families. Our study expanded the mutational spectrum of TACSTD2 which along with the related symptoms could help with the diagnosis, and management of the disease.
Keywords: Gelatinous drop-like, corneal dystrophy, GDLD, TACSTD, Iranian
Full-Text [PDF 611 kb]   (622 Downloads)    
Type of Study: Original Article | Subject: Genetics & Disease
Received: 2017/08/2 | Accepted: 2017/11/29 | Published: 2017/12/11
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Alehabib E, Jamshidi J, Ghaedi H, Emamalizadeh B, Andarva M, Daftarian N, et al . Novel Mutations in TACSTD2 Gene in Families with Gelatinous Drop-like Corneal Dystrophy (GDLD) . Int J Mol Cell Med. 2017; 6 (4) :204-211
URL: http://ijmcmed.org/article-1-723-en.html


Volume 6, Issue 4 (Int J Mol Cell Med 2017) Back to browse issues page
International Journal of Molecular and Cellular Medicine (IJMCM) International Journal of Molecular and Cellular Medicine (IJMCM)
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