Leu541Pro
This variant is found without ala1038val in patient 5. Patient 5 is a 36yo white female. Visual acuity= OD:10/120, OS:10/60-1. Central scotome. Type 1 fundus=diffuse pigmentary degenerative changes. Cone responses more reduced than rod amplitudes on ERG. Second variant: Asp600Tyr. Phase not confirmed
Patient 1
Case#: German/British, 76
DiseaseAssertion: EOSRD
FamilyInfo: Grandparents from Germany and the United Kingdom
CasePresentingHPOs: HP:0007401, HP:0007913
CaseHPOFreeText: Macular atrophy and pigmentation, peripheral pigmentation, early-onset severe retinal dystrophy
CaseNotHPOs: N/a
CaseNotHPOFreeText: N/a
Genotyping Method: BGISeq-500 2 x 100-bp paired-end module, Burrows-Wheeler Aligner and Genome Analysis Tooklit HaploptypeCaller
PreviouslyPublished: n/a
Variant: c.1622T>C, c.4326C>A, and c.3113C>T
ClinVar: 99067, 417991, 7894
CAID: CA226911, CA957653, CA119135
SupplementalData: The c.1622T>C variants and c.3133C>T are thought to be same gene copy
MD-0302 ABCA4 12 c.1622T>C p.Leu541Pro 42 c.5882G>A p.Gly1961Glu 17 Yes ABCR400
another case with 541 variant potentially not in cis with 1038
MD-0467 ABCA4 12 c.1622T>C p.Leu541Pro 43 c.5917delG p.Val1973* 7 NP ABCR400
another case with 541 variant potentially not in cis with 1038
13/8 35 0.017 163 0 – 3 – 3 4 L541P R1098C
Case#: Patient 13, 35yo
DiseaseAssertion: STGD
FamilyInfo: Family 8
CasePresentingHPOs:
CaseHPOFreeText: Visual acuity=0.017. OCT ft (μm)=163. MP (dB)=0. Fundus=3(extensive atrophic-appearing RPE changes). ERG=3(abnormal responses involving both rods and cones). mfERG=4(subnormal mfERG in the entire test field (0°–30°) plus pathologic Ganzfeld ERG).
CaseNotHPOs:
CaseNotHPOFreeText:
GenotypingMethod: PCR of coding regions, intron/exon boundaries, and 5′ and 3′ regions of ABCA4; Standard cycle-sequencing reactions with BigDye Terminator
PreviouslyPublished:
Variant: L541P; R1098C
CAID: CA226911;
SupplementalData: n/a
13/8 35 0.017 163 0 – 3 – 3 4 L541P R1098C
Case#: Patient 13, 35yo
DiseaseAssertion: STGD
FamilyInfo: Family 8
CasePresentingHPOs:
CaseHPOFreeText: Visual acuity=0.017. OCT ft (μm)=163. MP (dB)=0. Fundus=3(extensive atrophic-appearing RPE changes). ERG=3(abnormal responses involving both rods and cones). mfERG=4(subnormal mfERG in the entire test field (0°–30°) plus pathologic Ganzfeld ERG).
CaseNotHPOs:
CaseNotHPOFreeText:
GenotypingMethod: PCR of coding regions, intron/exon boundaries, and 5′ and 3′ regions of ABCA4; Standard cycle-sequencing reactions with BigDye Terminator
PreviouslyPublished:
Variant: L541P; R1098C
CAID: CA226911;
SupplementalData: n/a
MD-0474 ABCA4 12 c.1622T>C p.Leu541Pro 28 c.4234C>T p.Gln1412* 9 NP ABCR400
another case with 541 variant potentially not in cis with 1038