Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors
PMID: 15190009
Gene: NR2E3
HGNC: 7974
Disease: enhanced S-cone syndrome
MONDO: 0100288
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of enhanced S cone syndrome is <1 in 1,000,000 (PMID: 30900587).
Penetrance: The penetrance of enhanced S-cone syndrome has been difficult to determine accurately given the rarity of the condition.
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Case#: Haider_2000_Proband_5, female, age, and origin not reported
CasePresentingHPOs: N/A
CaseHPOFreeText: The proband is part of a cohort in which all patients had a diagnosis of enhanced S-cone syndrome, based on electroretinogram and/or psychophysics, as well as optical coherence tomography. Other phenotypes within the cohort members (but not tracked individually) included increased sensitivity to blue light; visual loss, night blindness occurring from early in life, varying degrees of L-cone and M-cone vision, and retinal degeneration.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: Previous genotyping was limited to Sanger sequencing of NR2E3, followed by SSCP to screen other family members for the variant.
CaseMethod1: Sanger sequencing of NR2E3
CaseMethod2: SSCP analysis of PCR products from NR2E3
CaseGenotypingMethod: Genotyping was performed by Sanger sequencing of NR2E3, followed by SSCP to screen other family members for the variant.
Variant: The individual harbors the NM_014249.4(NR2E3):c.290G>A (p.Arg97His) variant in the homozygous state.
ClinVarID: 867089
gnomAD: The variant is found in gnomAD version 4.1.0 at a frequency of 0.00002441 in the European non-Finnish population (28 alleles / 1147036 total alleles, with 0 homozygotes). https://gnomad.broadinstitute.org/variant/chr15-71811810-G-A?dataset=gnomad_r4
VariantEvidence: NM_014249.4(NR2E3):c.290G>A (p.Arg97His) is a missense variant within the zinc finger / DNA-binding domain of NR2E3,.
CaseAddInfo: The proband comes from a consanguineous family with mother and father being first cousins, and two similarly affected sisters sharing the same homozygous genotype.
CasePMIDs: N/A
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies
PMID: 18294254
Gene: NR2E3
HGNC: 7974
Disease: enhanced S-cone syndrome
MONDO: 0100288
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of enhanced S cone syndrome is <1 in 1,000,000 (PMID: 30900587).
Penetrance: The penetrance of enhanced S-cone syndrome has been difficult to determine accurately given the rarity of the condition.