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Purpose Stickler syndrome is a condition that has been associated with the onset of rhegmatogenous retinal detachment, and it occurs in conjunction with ocular, auditory, skeletal, and orofacial abnormalities. We wanted to demonstrate the accuracy of next-generation sequencing in the genetic analysis of four Indian families with suspected Stickler syndrome. Methods The index cases were presented with retinal detachment with family history. Next-generation sequencing of inherited retinal degeneration genes was done in the index case by next-generation sequencing of inherited retinal degeneration genes and confirmed by Sanger sequencing, followed by co-segregation analysis in the other family members. In the COL2A1 and COL11A1 genes, disease segregating heterozygous mutations with pathogenic/likely pathogenic function was identified. Conclusions NGS testing established the presence of the causative gene for Stickler syndrome in the index case, followed by analysis of family members and confirmation of genetic and ocular findings. We believe this may be the first official analysis of families with RRD from India.
Source link: https://europepmc.org/article/MED/35791160
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