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Genetic testing in four Indian families with suspected Stickler syndrome

Authors :
Suganya Kandeeban
Kaustubh Kandale
Porkodi Periyasamy
Muna Bhende
Pramod Bhende
Mathavan Sinnakaruppan
Sripriya Sarangapani
Source :
Indian Journal of Ophthalmology, Vol 70, Iss 7, Pp 2578-2583 (2022)
Publication Year :
2022
Publisher :
Wolters Kluwer Medknow Publications, 2022.

Abstract

Purpose: Stickler syndrome is associated with the development of rhegmatogenous retinal detachment (RRD), and often presents with ocular, auditory, skeletal, and orofacial abnormalities. Molecular analysis has proven effective in diagnosis, confirmation and classification of the disease. We aimed to describe the utility of next-generation sequencing (NGS) in genetic analysis of four Indian families with suspected Stickler syndrome. Methods: The index cases presented with retinal detachment with family history. Genetic analysis in the index case was performed by next-generation sequencing of inherited retinal degeneration genes, and validated by Sanger sequencing followed by co-segregation analysis in the other family members. Results: Twenty patients were included for the genetic analysis (15 males and 5 females from four families). Clinical details were available for 15 patients (30 eyes). Fourteen eyes (11 patients) developed RRD. In the 16 eyes without RRD, 8 underwent barrage laser to lattice degeneration and 8 were under observation. Disease segregating heterozygous mutations with pathogenic/likely pathogenic effect was identified in COL2A1 (c.4318-1G>A, c.141G>A, c.1221+1G>A for 3 families) and COL11A1 (c.1737+1 G>A for 1 family) gene. In addition to the mutation in the COL2A1 gene, a pathogenic heterozygous variant associated with risk for arrhythmogenic right ventricular cardiomyopathy (ARVC) was identified in one member. Conclusion: NGS testing confirmed the presence of the causative gene for Stickler syndrome in the index case followed by evaluation of family members and confirmation of genetic and ocular findings. We believe that this may be the first such report of families with RRD from India.

Details

Language :
English
ISSN :
03014738 and 19983689
Volume :
70
Issue :
7
Database :
Directory of Open Access Journals
Journal :
Indian Journal of Ophthalmology
Publication Type :
Academic Journal
Accession number :
edsdoj.9a9a78606644ffb9288ab6de626b2eb
Document Type :
article
Full Text :
https://doi.org/10.4103/ijo.IJO_1833_21