Table 1 of Chacon-Camacho, Mol Vis 2024; 30:400-408.

Table 1. Known genetic defects in the (MCDR1) PRDM13 and (MCDR3) IRX1 regions found in NCMD and possibly related diseases.

Variant number Type of variant Chromosomal position (hg19) Chromosomal position (hg38) Nucleotide change Phenotype Reference #
MCDR1 locus (PRDM13), chromosome 6q16.2
V1 SNV chr6:100040906 chr6:99593030 G>T NCMD 6
V2 SNV chr6:100040987 chr6:99593111 G>C NCMD 6
V3 SNV chr6:100041040 chr6:99593164 C>T NCMD 6
V4 Tandem DUP chr6:100020205-100143306 chr6:99572329-99695430 123,101 bp DUP NCMD 6
V6 Tandem DUP chr6:99996226-100065137 chr6:99548350-99617261 69,912 bp DUP NCMD 7
V7 Tandem DUP chr6:99984309-100082698 chr6:99536433-99634822 98,389 bp DUP NCMD 8
V10 SNV chr6:100046804 chr6:99598928 T>C PBCRA 22
V11 SNV chr6:100046783 chr6:99598907 A>C NCMD
PBCRA 22
13
V12 SNV chr6:100040974 chr6:99593098 A>C Possible NCMD* 9
V13 Tandem DUP chr6:100008141-100064368 chr6:99560265-99616492 56,228 bp DUP NCMD 10
V14 Tandem DUP chr6:99932464- 100067110 Chr6:99484588- 99619234 134,646 bp
DUP NCMD 11
V15 SNV Chr:100040970 Chr6:99599064 A>G NCMD 12
V16 SNV chr6:100040906 chr6:99593030 G>C NCMD 12
V17 SNV chr6:100046790 chr6:g.99598914 T>C NCMD 16
V18 SNV chr6:100046802 chr6:g.99598926 G>A NCMD 16
V19 Tandem DUP chr6:100019429-100167607 chr6:99571553-99719731 148,178bp
DUP NCMD Present report
MCDR3 locus (IRX1), chromosome 5p15.32
V5 Tandem DUP chr5:3587901-4486027 chr5:3587787-4485914 898,126 bp DUP NCMD 6
V8 Tandem DUP chr5:4391377–4436535 chr5:4391264-4436422 45,158 bp DUP NCMD 17
V9 Tandem DUP chr5:4396927–4440442 chr5:4396814-4440329 43,515 bp DUP NCMD 17

Abbreviations used: bp: base pair, chr: chromosome, DUP: duplication, SNV: single nucleotide variation. A: adenine, C: cytosine, G: guanine; T: thymine. NCMD: North Carolina Macular Dystrophy. PBCRA: progressive bifocal chorioretinal atrophy. *This reported SNV occurred in a small family in an isolated population with diagnostic
 inconsistencies and molecular confounding factors and needs to be corroborated.

Chacon-Camacho, Mol Vis 2024; 30:400-408. http://www.molvis.org/molvis/v30/400

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