FamilyLabel: Farrar_1991_Family, family national origin reported as Irish
Family#PresentingHPOs: Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Undetectable dark-adapted electroretinogram HP:0030474, Abnormal light-adapted electroretinogram HP:0008275, Pigmentary retinopathy HP:0000580, Optic disc pallor HP:0000543, Retinal arteriolar constriction HP:0008043, Bone spicule pigmentation of the retina HP:0007737
FamilyHPOFreeText: The patient and affected family members have been diagnosed with retinitis pigmentosa, with onset noted as late. Nyctalopia generally presented in the early third decade, while rod ERG responses showed reduced amplitudes in the teens.
Family#PresentingNotHPOs: N/A
Family#PresentingNotHPOFreeText: N/A
CountryOrigin: Ireland
Ethnicity: Not mentioned
Race: Not mentioned
Family#PreviousTesting: Previous testing did not occur in this family, although linkage mapping had previously identified PRPH2 as a candidate locus for variants causing RP.
Family#Method1: Single strand conformation polymorphism analysis of PCR-amplified cDNA products from the PRPH2 gene, followed by Sanger sequencing of the relevant PCR product to identify the variant
Family#Method2: allele-specific PCR to genotype family members
Family#GenotypingMethod: Previous testing of this family did not include linkage mapping, although this technique had previously identified PRPH2 as a candidate locus for variants causing RP. Genotyping started with single strand conformation polymorphism analysis of PCR-amplified cDNA products from the PRPH2 gene, followed by Sanger sequencing of the relevant PCR product to identify the variant. Allele-specific PCR was subsequently performed to genotype family members.
Affected: 9
Unaffected: 6
Segregations: Nine segregations are reported in the family, with none inconsistent. The family is not reported to be consanguineous. The pedigree is shown in Figure 2.
PublishedLOD: N/A
eLOD: 2.70
AddSegregationInfo: N/A
ProbandLabel: Farrar_1991_Proband
Variant: The affected family members harbor the NM_000322.5:c.356_358del (p.Cys119del) variant in the heterozygous state.
CAID: CA226222
gnomAD: This variant was not found in gnomAD v2.1.1.
FamilyAddInfo: The family has not been reported as consanguineous.
FamilyPMIDs: N/A