Identification of novel mutations in leber congenital amaurosis 1 using next generation sequencing

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SALEH GOHARI NASROLLAH; Amiri Houshang; SAEIDI Kolsoum

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Journal Paper

Paper Information

Journal: Journal of Jiroft University of Medical Sciences Year:2021 | Volume:8 | Issue:2 Page(s): 634-641

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Information Journal Paper

Title

Identification of novel mutations in leber congenital amaurosis 1 using next generation sequencing

Author(s)

SALEH GOHARI NASROLLAH | Amiri Houshang | SAEIDI Kolsoum | Issue Writer Certificate

Keywords

Next generation sequencing

Mutation

Gene

Leber congenital amaurosis

GUCY2D

Abstract

Introduction: Leber congenital amaurosis (LCA) is a vision loss disorder that begins in infancy. DifferentGenes are associated with LCA. They usually have autosomal recessive inheritance. In the present study, the Genetic basis of congenital blindness in two Iranian families was examined. Materials and Methods: Generation sequencing/fa?page=1&sort=1&ftyp=all&fgrp=all&fyrs=all" target="_blank">Next Generation sequencing technique was used for investigation of theunderlying Mutations in patients with LCA. The Sanger sequencing was employed to validate the identified potential pathogenic Mutations. Results: In the present study, two novel Mutations in GUCY2D Gene were detected in probands. FirstMutation was a frameshift Mutation caused by single base deletion (c. 1264delC), and the second one was anonsense Mutation (c. 2116C>T) resulting in stop codon. It was found that the carrier members were unaffected while the affected ones were homozygotes. Both Mutations were confirmed using Sangersequencing. Conclusion: Herein, two novel pathogenic Mutations were reported in Leber congenital amaurosis. Thiswould be of importance in Genetic diagnosis and consultation of patients affected with LCA.

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APA: Copy

SALEH GOHARI, NASROLLAH, Amiri, Houshang, & SAEIDI, Kolsoum. (2021). Identification of novel mutations in leber congenital amaurosis 1 using next generation sequencing. JOURNAL OF JIROFT UNIVERSITY OF MEDICAL SCIENCES, 8(2 ), 634-641. SID. https://sid.ir/paper/415236/en

Vancouver: Copy

SALEH GOHARI NASROLLAH, Amiri Houshang, SAEIDI Kolsoum. Identification of novel mutations in leber congenital amaurosis 1 using next generation sequencing. JOURNAL OF JIROFT UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2021;8(2 ):634-641. Available from: https://sid.ir/paper/415236/en

IEEE: Copy

NASROLLAH SALEH GOHARI, Houshang Amiri, and Kolsoum SAEIDI, “Identification of novel mutations in leber congenital amaurosis 1 using next generation sequencing,” JOURNAL OF JIROFT UNIVERSITY OF MEDICAL SCIENCES, vol. 8, no. 2 , pp. 634–641, 2021, [Online]. Available: https://sid.ir/paper/415236/en

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