Case#: Chatterjee_2022_proband_II:4, female, age 16 years at time of report, onset in second decade of life, geographic origin reported as north Indian
CasePresentingHPOs: HP:0410280 (Pediatric onset), HP:0000613 (Photophobia), HP:0000662 (Nyctalopia), HP:0030564 (Best corrected visual acuity 1.1 LogMAR), HP:0025147 (Beaten bronze macular sheen), HP:0011507 (Macular flecks), HP:0030619 (Reduced OCT-measured foveal thickness), HP:0025010 (Foveal atrophy)
CaseHPOFreeText: The patient and siblings have been diagnosed with Stargardt-like juvenile macular dystrophy.
CaseNotHPOs: HP:0007737 (Bone spicule pigmentation of the retina)
CaseNotHPOFreeText: N/A
CasePreviousTesting: Previous genotyping consisted of whole-exome sequencing.
CaseMethod1: whole-exome sequencing
CaseMethod2: Sanger sequencing of the 19 exons of the IMPG2 gene
CaseGenotypingMethod: Genotyping consisted of whole-exome sequencing followed by Sanger sequencing of the 19 exons of the IMPG2 gene.
Variant: The patient harbors the NM_016247.4:c.1239+1G>T variant in the homozygous state.
CAID: CA353864391
gnomAD: The variant was found in gnomAD v2.1.1.
VariantEvidence: NM_016247.4:c.1239+1G>T is a canonical splice site variant in intron 11 of the 19-exon locus that has been shown by mini-gene assay to trigger a splicing defect that leads to complete skipping of exon 11. Because this would lead to a shift of frame, the variant is predicted to lead to a premature stop after codon 385 and either NMD or truncation of 69% of the C-terminus of the protein product.
CaseAddInfo: The family is consanguineous, with the parents being first cousins and heterozygous carriers of the variant. The patient has two affected siblings who share the same genotype.
CasePMIDs: N/A