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Whole exome sequencing identifies a novel splice-site mutation in IMPG2 gene causing Stargardt-like juvenile macular dystrophy in a north Indian family.

Gene - 30 Mar 2022

Chatterjee Souradip, Gupta Shashank, Chaudhry Vidya Nair, Chaudhry Prashaant, Mukherjee Ashim, Mutsuddi Mousumi

Abstract excerpt

We report on the genetic analysis of a north Indian family affected with Stargardt-like juvenile macular dystrophy. Considering an autosomal recessive inheritance of macular dystrophy in the recruited family, whole exome sequencing was employed in two affected siblings and their mother. We have identified a novel splice-site variant NC_000003.11(NM_016247.3):c.1239 + 1G > T, co-segregating in the affected...

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PMID: 34990796
DOI: 10.1016/j.gene.2021.146158

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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