Cat-Map Chromosome 8 shiels.lab 11/6/2011
Cytogenet Physical Gene Exon/ DNA Change Coding Change Inh* Origin Cataract Phenotype Other Phenotype Reference Mouse Mouse Reference Rat Rat Reference
ic Locus Locus (Mbp) Intron Locus/Mutant Locus/Mutant
8p23.2- ? AR Pakistan Laminar, nuclear Sabir et al. 2010
p21.3
8p23.1- FDFT1 14 Fdft1 15 Fdft1
p22
? ? Shumiya cataract Mori et al. 2006
rat (SCR)
8p22 NAT2 Slow Cx S. Africa Age-related Meyer et al. 2003 8 Nat2
8p22 NAT2 NAT2*6A (slow) Cx Turkey Age-related Tamer et al. 2005
8p21.3 BIN3 14 Bin3
null Ramalingam et al. 2008
8p21.2 DOCK5 14 Dock5
rlc Omi et al. 2008
8p21.1 ESCO2 AR Roberts syndrome 14 Esco2
8p12- WRN AR Presenile posterior Werner syndrome http://www.pathology. 8 Wrn
p11.2 subcapsular washington.edu/resear
ch/werner/database/
8p12- WRN Ex35 c.4099T>C p.C1367R Cx Israel Age-related nuclear Ehrenberg et al. 2010
p11.2 rs1346044 (no association)
8p12-p11 IDO1 IVS4 rs4613984 (G>A) Cx India Age-related nuclear & Mamata et al. 2011 8 Ido1
posterior sub-capsular
8p11.22 ADAM9 AR Small posterior Cone-rod dystrophy-9 (CORD9) 8 Adam9
subcapsular
8q13.3 72,109,668… EYA1 Ex10 c.988G>A p.E330K AD Japan Persistence of pupilary membrane Azuma, et al. 2000 1 Eya1
72,274,467
8q13.3 EYA1 Ex12 c.1177G>A p.G393S AD Japan Nuclear-type, Brachio-oto-renal syndrome-1 Azuma, et al. 2000
congenital (BOR1), nystagmus
8q13.3 EYA1 Ex15 c.1320G>A p.R407Q AD Japan Nuclear-type, Central corneal opacity, Peters' Azuma, et al. 2000
congenital anomaly
8q21 NBN AR Nijmegen breakage syndrome 4 Nbn
null Yang et al. 2006
8q21.1 PXMP3 AR Zellweger syndrome-3 3 Pxmp3
8q21-q22 CNGB3 AR Achromatopsia-3 4 Cngb3
8q24.3 RECQL4 AR Subcapsular Rothmund Thompson syndrome 15 Recql4