en Genetics & Disease Genetics & Disease Original Article Original Article <div style="text-align: justify;">In the current study, we conducted a mutation screening of tumor-associated calcium signal transducer 2 (<em>TACSTD2</em>) 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 <em>TACSTD2</em> 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 <em>TACSTD2</em> gene revealed the causative mutations in this gene in all studied families. Our study expanded the mutational spectrum of <em>TACSTD2</em> which along with the related symptoms could help with the diagnosis, and management of the disease.</div> Gelatinous drop-like, corneal dystrophy, GDLD, TACSTD, Iranian 204 211 http://ijmcmed.org/browse.php?a_code=A-10-718-4&slc_lang=en&sid=1 Elham Alehabib elham_47561@yahoo.com 100319475328460010756 100319475328460010756 No Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Javad Jamshidi j.jamshidi@fums.ac.ir 100319475328460010757 100319475328460010757 No Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran Hamid Ghaedi qaedi65@gmail.com 100319475328460010758 100319475328460010758 No Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Babak Emamalizadeh emamalizadeh_b@yahoo.com 100319475328460010759 100319475328460010759 No Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran Monavvar Andarva monavarandarva@gmail.com 100319475328460010760 100319475328460010760 No Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Narsis Daftarian nardaftarian@hotmail.com 100319475328460010761 100319475328460010761 No Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran Mozhgan Rezaei Kanavi rezaeikanavi@sbmu.ac.ir 100319475328460010762 100319475328460010762 No Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran Peyman Mohammadi Torbati ptorabati@yahoo.com 100319475328460010763 100319475328460010763 No Department of Pathology, Labbafi-Nezhad Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran Goldis Espandar goldis_espandar@yahoo.com 100319475328460010764 100319475328460010764 No Department of Pathology, Labbafi-Nezhad Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran Somayeh Alinaghi somayealinaghii@yahoo.com 100319475328460010765 100319475328460010765 No Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Amir Hossein Johari amir1899_fcb@yahoo.com 100319475328460010766 100319475328460010766 No Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Mansoor Saghally msaghally86@yahoo.com 100319475328460010767 100319475328460010767 No Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Fatemeh Mohajerani parastoo.mohajer39@yahoo.com 100319475328460010768 100319475328460010768 No Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Hossein Darvish darvish_mg@sbmu.ac.ir 100319475328460010769 100319475328460010769 Yes Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.